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| Gene | Disease research area | PGD-SEQ Panel Cat. No. |
| SMN1 | Spinal muscular atrophy | BA03784 |
| POMK | Muscular dystrophy-dystroglycanopathy | BA03785 |
| ACADM | Medium chain acyl-CoA dehydrogenase deficiency | BA03798 |
| BBS10 | Bardet-Biedl syndrome 10 | BA03799 |
| CFTR | Cystic fibrosis | BA03800 |
| LZTR1 | Charcot-Marie-Tooth type 1B | BA03801 |
| COL11A1 | Stickler syndrome | BA03802 |
| COL1A1 | Osteogenesis imperfecta (COL1A1) | BA03803 |
| COL2A1 | Spondyloepiphyseal dysplasia | BA03804 |
| CYP21A2 | Congenital adrenal hyperplasia | BA03805 |
| D4Z4 | Facioscapulohumeral muscular dystrophy (FSHD) | BA03806 |
| DMD | Duchenne muscular dystrophy | BA03807 |
| DMPK | Steinert disease (Myotonic dystrophy type 1) | BA03808 |
| DYNC2H1 | Jeune syndrome | BA03809 |
| EVC, EVC2 | Ellis-van Creveld syndrome | BA03811 |
| EXT1 | Exostoses type 1 | BA03812 |
| EXT2 | Exostoses type 2 | BA03813 |
| F8 | Hemophilia A | BA03814 |
| FBN1 | Marfan syndrome | BA03815 |
| FMR1 | Fragile-X syndrome | BA03816 |
| FUS | Amyotrophic lateral sclerosis (ALS) | BA03817 |
| GALNS | Mucopolysaccharidosis IV | BA03818 |
| GJA1 | Oculodentodigital dysplasia | BA03819 |
| HBB | Beta thalassemia | BA03820 |
| HTT | Huntington | BA03821 |
| HEXA | Tay-Sachs disease | BA03822 |
| HLA | Histocompatibility | BA03823 |
| IL2RG | X-linked combined immunodeficiency | BA03824 |
| ABCD1 | Adrenoleukodystrophy X-Linked | BA03825 |
| LAMB3 | Junctional epidermolysis bullosa | BA03826 |
| LMNA | Dilated cardiomyopathy | BA03827 |
| MSH2 | Lynch syndrome | BA03828 |
| MEN1 | Multiple endocrine neoplasia | BA03829 |
| NOTCH3 | CADASIL | BA03830 |
| OTC | Ornithine transcarbamylase deficiency | BA03831 |
| PKD1 | Polycystic kidney disease 1 | BA03832 |
| PKD2 | Polycystic kidney disease 2 | BA03833 |
| PKHD1 | Polycystic kidney disease AR | BA03834 |
| RET | Multiple endocrine neoplasia type 2 | BA03835 |
| RHO | Retinitis pigmentosa | BA03836 |
| RYR1 | Central core disease | BA03837 |
| ATL1 | Spastic paraplegia type 3A | BA03838 |
| TBX5 | Holt-Oram syndrome | BA03839 |
| TCOF1 | Treacher-Collins syndrome | BA03840 |
| TSC1 | Tuberous sclerosis | BA03841 |
| TWIST1 | Saethre-Chotzen syndrome | BA03842 |
| UNC13D | Hemophagocytic lymphohistiocytosis 3 | BA03843 |
| HBA1, HBA2 | Alpha thalassemia | BA03864 |
| ANTXR2 | Hereditary systemic hyalinosis | BA04277 |
| ABCB11 | Progressive familial intrahepatic cholestasis | BA04362 |
| L1CAM | Hydrocephalus | BA04382 |
| ALS2 | Amyotrophic lateral sclerosis (ALS) | BA04383 |
| BBS4 | Bardet-Biedl syndrome 4 | BA04384 |
| ATXN2 | Spinocerebellar ataxia type 2 | BA04385 |
| CENPJ | Microcephaly | BA04386 |
| PMM2 | Congenital disorder of glycosylation | BA04387 |
| CHM | Choroideremia | BA04388 |
| CSF1R | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP ) | BA04389 |
| EDA | Hypohidrotic ectodermal dysplasia | BA04390 |
| FGFR3 | Achondroplasia | BA04391 |
| HNF1B | Renal cysts and diabetes syndrome | BA04392 |
| MYBPC3 | Hypertrophic cardiomyopathy | BA04393 |
| MYH7 | Miopathy | BA04394 |
| PAX6 | Aniridia | BA04395 |
| PMP22 (CMT1A) | Charcot-Marie-Tooth type 1A and 1E | BA04396 |
| SPAST | Spastic paraplegia type 4 | BA04397 |
| TGFBR1 | Loeys-Dietz syndrome | BA04398 |
| TP53 | Li-Fraumeni syndrome | BA04399 |
| VHL | Von Hippel-Lindau syndrome | BA04400 |
| VPS13B | Cohen syndrome | BA04401 |
| ATXN1 | Spinocerebellar ataxia type 1 | BA04402 |
| MKS1 | Meckel Gruber syndrome | BA04403 |
| PLP1 | Pelizaeus-Merzbacher disease | BA04404 |
| TNXB | Ehlers-Danlos syndrome, classical-like | BA04405 |
| AIMP2 | Progressive neurodevelopmental disorder | BA04406 |
| GALC | Krabbe disease | BA04549 |
| CLCN1 | Myotonia congenita | BA04569 |
| TNNT2 | Dilated cardiomyopathy | BA04570 |
| PHEX | Hypophosphatemic rickets | BA04571 |
| ACADVL | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | BA04572 |
| AR | Kennedy disease | BA04573 |
| GALT | Galactosemia | BA04574 |
| BSCL2 | Spastic paraplegia | BA04575 |
| BRCA1 | Breast-ovarian cancer syndrome | BA04576 |
| NF1 | Neurofibromatosis type 1 | BA04577 |
| CEP290 | Meckel-Gruber syndrome | BA04578 |
| PEX16 | Zellweger syndrome | BA04579 |
| AGL | Glycogen storage disease type III | BA04582 |
| LAMA3 | Epidermolysis bullosa | BA04584 |
| RB1 | Retinoblastoma | BA04586 |
| SCN4A | Paramyotonia | BA04587 |
| LAMA2 | LAMA2-related muscular dystrophy | BA04588 |
| BRCA2 | Breast-ovarian cancer syndrome 2 | BA04603 |
| COL7A1 | Dystrophic epidermolysis bullosa | BA04604 |
| ECHS1 | Mitochondrial syndrome | BA04605 |
| FH | Hereditary leiomyomatosis and renal cell cancer (HLRCC) | BA04606 |
| PRPH2 | Stargardt disease | BA04607 |
| COQ4 | Primary coenzyme Q10 deficiency | BA04622 |
| TGM1 | Hereditary ichthyosis | BA04631 |
| CPLANE1 (C5orf42) | Joubert syndrome | BA04632 |
| ADAT3 | Mental retardation | BA04633 |
| ITGA2B | Glanzmann thrombasthenia | BA04634 |
| TRIP11 | Achondrogenesis type 1A | BA04652 |
| GRIA3 | Intellectual developmental disorder | BA04653 |
| GLB1 | GM1 ganglioside | BA04654 |
| C12orf57 | Temtamy syndrome | BA04655 |
| POMGNT2 | Walker-Warburg syndrome | BA04656 |
| GLDC | Glycine encephalopathy | BA04657 |
| COL6A1 | Ullrich myopathy | BA04658 |
| ELAC2 | Hypertrophic cardiomyopathy | BA04659 |
| SMPD1 | Niemann-Pick disease (SMPD1) | BA04660 |
| IDS | Mucopolysaccharidosis type II (MPS II - Hunter syndrome) | BA04681 |
| HMGCL | HMGCL deficiency | BA04725 |
| LIPH | Autosomal recessive hypotrichosis | BA04726 |
| PHKB | Glycogen storage disease type IX | BA04727 |
| RAB3GAP1 | RAB18 deficiency | BA04728 |
| OSTM1 | Osteopetrosis, AR 5 | BA04730 |
| SLC5A7 | Myasthenic syndrome, congenital, 20, presynaptic | BA04731 |
| ECM1 | Lipoid proteinosis | BA04732 |
| TUSC3 | Mental retardation, autosomal recessive 7 | BA04733 |
| RPGRIP1 | Leber congenital amaurosis | BA04734 |
| PDE6C | Achromatopsia / Cone-rod dystrophy | BA04735 |
| DNAH5 | Primary ciliary dyskinesia/Heterotaxy | BA04736 |
| WDR62 | Autosomal recessive primary microcephaly (WDR62) | BA04762 |
| SLC26A3 | Congenital secretory diarrhea, chloride type | BA04763 |
| ABCB4 | Intrahepatic cholestasis type 3 | BA04764 |
| ALPL | Hypophosphatasia | BA04804 |
| HBB, HLA | Beta thalassemia & Histocompatibility | BA04819 |
| APC | Familial adenomatous polyposis (FAP) | BA04820 |
| CCM2 | Cerebral cavernous malformations | BA04821 |
| OTOF | DFNB9 Nonsyndromic Hearing Loss | BA04822 |
| WAS | Wiskott-Aldrich syndrome | BA04823 |
| COL4A5 | Alport syndrome | BA04824 |
| KCNH2 | Short QT syndrome | BA04825 |
| TCTN2 | Joubert syndrome | BA04826 |
| ABCA3 | Pulmonary surfactant dysfunction due to ABCA3 deficiency | BA04838 |
| TSEN54 | Pontocerebellar Hypoplasia | BA04845 |
| ECEL1 | Distal arthrogryposis type 5D | BA04898 |
| MMAB | Methylmalonic Acidemia | BA04899 |
| STXBP2 | Familial hemophagocytic lymphohistiocytosis | BA04900 |
| ASL | Argininosuccinic Aciduria | BA04901 |
| SLC13A5 | Epileptic encephalopathy, early infantile, 25 | BA04902 |
| TBC1D7 | Macrocephaly/megalencephaly syndrome, AR | BA04903 |
| DCAF17 (C2orf37) | Woodhouse-Sakati syndrome | BA04904 |
| NSD1 | Sotos syndrome | BA04905 |
| ABCG5 | Sitosterolemia | BA04913 |
| CLN3 | CLN3 disease | BA04914 |
| SLC2A2 | Fanconi-Bickel syndrome | BA04915 |
| ARSB | Mucopolysaccharidosis type VI | BA04916 |
| WWOX | Spinocerebellar ataxia, AR 12 | BA04917 |
| ACADS | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency | BA04918 |
| TBCE | Kenny-Caffey syndrome type 1 | BA04919 |
| SLC45A2 | Oculocutaneous albinism | BA04920 |
| CYP1B1 | Early-onset glaucoma | BA04921 |
| PTF1A | Pancreatic agenesis 2 | BA04922 |
| BTK | X-linked agammaglobulinemia (XLA) | BA04964 |
| ADA | Adenosine deaminase deficiency | BA04965 |
| DNAI2 | Ciliary dyskinesia, primary, 9 | BA04966 |
| FGA | Hereditary renal amyloidosis | BA04967 |
| BRIP1 | Fanconi Anemia | BA05131 |
| ASPM | Autosomal Recessive Primary Microcephaly (ASPM) | BA05133 |
| KDM6A | Kabuki syndrome | BA05135 |
| ERF | Craniosynostosis | BA05137 |
| KCNT1 | KCNT1-Related Epilepsy | BA05139 |
| TREX1 | Aicardi-Goutières syndrome | BA05141 |
| COL1A2 | Osteogenesis Imperfecta (COL1A2) | BA05143 |
| ALOX12B | Self-healing collodion baby | BA05145 |
| RAG1 | Combined immunodeficiency due to RAG1 deficiency | BA05147 |
| FKRP | FKRP-related muscular dystrophy | BA05154 |
| IDUA | Mucopolysaccharidosis type I (MPS I) | BA05168 |
| POLG | Alpers-Huttenlocher syndrome | BA05170 |
| Del5p13 (Cri-du-chat) | Cri-du-chat syndrome | BA05200 |
| ETFDH | Glutaric acidemia type II | BA05205 |
| GBA | Gaucher disease | BA05206 |
| GJB2 | Deafness, autosomal recessive 1A | BA05207 |
| KMT2D | Kabuki Syndrome (KMT2D) | BA05208 |
| NPHS2 | Nephrotic syndrome, type 2 | BA05209 |
| RAG2 | Omenn syndrome | BA05210 |
| Deletion 15q11.2 | Deletion 15q11.2 (PWS/AS region) | BA05211 |
| ABCC8, KCNJ11 | Neonatal diabetes mellitus | BA05212 |
| TTR | Transthyretin Amyloidosis | BA05215 |
| GCDH | Glutaric acidemia type I | BA05220 |
| SERPINA1 | Alpha-1 antitrypsin deficiency | BA05233 |
| NPC1 | Niemann-Pick disease (NPC1) | BA05242 |
| BEST1 | Vitelliform macular dystrophy | BA05246 |
| HADHA | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | BA05288 |
| UPB1 | Beta-ureidopropionase deficiency | BA05328 |
| FLG | Ichthyosis vulgaris | BA05333 |
| CHRNG | Multiple pterygium syndrome | BA05363 |
| GJA8 | Cataract | BA05364 |
| KRT5 | Epidermolysis bullosa simplex (KRT5) | BA05365 |
| KRT14 | Epidermolysis bullosa simplex (KRT14) | BA05366 |
| MPDZ | Hydrocephalus, congenital, 2 | BA05367 |
| NPPA | Atrial fibrillation, familial | BA05368 |
| PEX2 | Zellweger syndrome (PEX2) | BA05369 |
| PRKG1 | Aortic aneurysm, familial thoracic | BA05370 |
| SLC12A1 | Bartter syndrome type I | BA05371 |
| IKBKG | Incontinentia Pigmenti | BA05536 |
| G6PD | Glucose-6-phosphate dehydrogenase deficiency | BA05547 |
| FANCA | Fanconi Anemia | BA05548 |
| HBB + HBA 1-2 | Beta thalassemia & Alpha thalassemia | BA05549 |
| PAH | Hyperphenylalanemia, non-PKU mild | BA05550 |
| FGFR2 | Crouzon syndrome | BA05551 |
| MCCC2 | 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency | BA05552 |
| CHEK2 | Susceptibility to breast cancer | BA05683 |
| HFE | Hereditary Hemochromatosis type 1 | BA05684 |
| HPRT1 | Lesch-Nyhan syndrome | BA05685 |
| SCN5A | Long QT syndrome 3 | BA05686 |
| LDLR | Associated disease is Hypercholesterolemia familial 1 | BA05687 |
| ATM | Ataxia-Telangiectasia | BA05916 |
| RERE | Neurodevelopmental syndrome | BA05917 |
| AP4M1 | Spastic paraplegia | BA05918 |
| ATXN3 | Spinocerebellar ataxia-3 | BA05919 |
| PKP2 | Arrhythmogenic right ventricular dysplasia 9 | BA05920 |
| KMT2B | Dystonia 28, childhood-onset | BA05921 |
| MYO7A | Deafness, autosomal dominant 11 | BA06027 |
| ADGRG1 | Polymicrogyria, bilateral frontoparietal | BA06030 |
| TNFSF11 | Osteopetrosis, autosomal recessive 2 | BA06032 |
| PPP1R21 | Decreased viability | BA06034 |
| UBA5 | Developmental and epileptic encephalopathy 44 | BA06037 |
| NUBPL | Mitochondrial complex I deficiency, nuclear type 21 | BA06039 |
| SETD5 | Mental retardation, autosomal dominant 23 | BA06041 |
| APRT | Adenine phosphoribosyltransferase deficiency | BA06044 |
| SOX6 | Tolchin-Le Caignec syndrome | BA06046 |
| BCKDHB | Maple syrup urine disease, type Ib | BA06048 |
| GORAB | Geroderma osteodysplasticum | BA06050 |
| TBCK | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | BA06052 |
| NDUFS8 | Mitochondrial complex I deficiency, nuclear type 2 | BA06054 |
| NOG | Multiple synostoses syndrome 1 | BA06058 |
| MLH1 | Mismatch repair cancer syndrome | BA06139 |
| DES | Cardiomyopathy, dilated, 1I | BA06159 |
| ACTA2 | Aortic aneurysm, familial thoracic 6 | BA06160 |
| GCH1 | Dystonia, DOPA-responsive | BA06161 |
| ATRX | Mental retardation-hypotonic facies syndrome, X-linked | BA06162 |
| PNKP | Charcot-Marie-Tooth disease, type 2B2 | BA06163 |
| WNT10A | Odontoonychodermal dysplasia | BA06164 |
| F12 | Hereditary angioedema type 3 | BA06165 |
| Deletion 1q21.1 | 1q21.1 microdeletion | BA06166 |
| AHI1 | Joubert syndrome 3 | BA06167 |
| COL1A1 | Osteogenesis imperfecta | BA06168 |
| CACNA1S | Hypokalemic periodic paralysis, type 1 | BA06169 |
| CACNA1A | Spinocerebellar ataxia 6 (SCA6) | BA06170 |
| NPHS1 | Nephrotic syndrome type 1 | BA06171 |
| C9orf72 | Frontotemporal dementia and/or ALS 1 | BA06172 |
| ENG | Telangiectasia, hereditary hemorrhagic, type 1 | BA06173 |
| ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2 | BA06174 |
| MATN3 | PGD-Seq Epiphyseal dysplasia, multiple, 5 | BA06180 |
| RAPSN | Fetal akinesia deformation sequence 2 | BA06181 |
| CLCN5 | Dent disease 1 | BA06182 |
| F9 | Hemophilia B | BA06183 |
| HEXB | Sandhoff disease, infantile, juvenile, and adult forms | BA06184 |
| ABCG8 | Sitosterolemia 1 | BA06185 |
| GRN | Frontotemporal lobar degeneration with ubiquitin-positive inclusions | BA06186 |
| ATP2A2 | Darier disease | BA06187 |
| MTHFR | Homocystinuria | BA06188 |
| ABCC6 | Pseudoxanthoma elasticum | BA06189 |
| SLC6A8 | Cerebral creatine deficiency syndrome 1 | BA06347 |
| ATXN-7 | Spinocerebellar ataxia 7 | BA06348 |
| 16p11.2 microdup | 16p11.2 microduplication | BA06349 |
| ATP7B | Wilson disease | BA06350 |
| SNRNP200 | Retinitis pigmentosa 33 | BA06351 |
| MSH6 | Hereditary colorectal cancer | BA06352 |
| GNPAT | Rhizomelic chondrodysplasia punctata, type 2 | BA06353 |
| SATB2 | Glass syndrome | BA06354 |
| RH | Blood group, RH system | BA06355 |
| DHCR7 | Smith-Lemli-Opitz syndrome | BA06356 |
| RPGR | Retinitis pigmentosa 33 | BA06357 |
| ERCC8 | Cockayne syndrome, type A | BA06358 |
| PPP2R2B | Spinocerebellar ataxia 12 | BA06359 |
| CNBP | Myotonic dystrophy 2 | BA06360 |
| USH2A | Usher Syndrome, type 2A | BA06361 |
| MTTL1 | MELAS syndrome | BA06362 |
| SGCA | Muscular dystrophy, limb-girdle, autosomal recessive 3 | BA06420 |
| COG6 | Congenital disorder of glycosylation, type IIl | BA06424 |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | BA06427 |
| SCN10A | Episodic pain syndrome, familial, 2 | BA06429 |
| POC1A | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | BA06433 |
| SH3TC2 | Charcot-Marie-Tooth disease, type 4C | BA06435 |
| GBE1 | Glycogen storage disease IV | BA06438 |
| KIF1C | Spastic ataxia 2, autosomal recessive | BA06440 |
| DNAH11 | Ciliary dyskinesia, primary, 7, with or without situs inversus | BA06442 |
| B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | BA06444 |
| ZFYVE26 | Spastic paraplegia 15, autosomal recessive | BA06447 |
| SLC26A4 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | BA06449 |
| POLD1 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | BA06453 |
| SLC12A3 | Gitelman syndrome | BA06455 |
| DEAF1 | Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures | BA06458 |
| PEX1 | Peroxisome biogenesis disorder 1A (Zellweger) | BA06500 |
| TMEM216 | Joubert syndrome 2 / Meckel syndrome 2 | BA06501 |
| TTN | Dilated Cardiomyopathy 1G | BA06502 |
| MYL2 | Hypertrophic Cardiomyopathy 10 | BA06503 |
| GAA | Glycogen storage disease II | BA06504 |
| BBS1 | Bardet-Biedl syndrome 1 | BA06505 |
| CLDN19 | Hypomagnesemia 5, renal, with ocular involvement | BA06506 |
| PABPN1 | Oculopharyngeal muscular dystrophy | BA06507 |
| BTD | Biotinidase deficiency | BA06508 |
| SERPING1 | Angioedema, hereditary, 1 and 2 | BA06509 |
| PCNT | Microcephalic osteodysplastic primordial dwarfism, type II | BA06510 |
| WNT2B | Diarrhea 9 | BA06511 |
| ATAD3A | Harel-Yoon syndrome | BA06512 |
| ELANE | Neutropenia, severe congenital 1 | BA06514 |
| COL3A1 | Ehlers-Danlos syndrome, vascular type. | BA06513 |
| ADAR | Aicardi-Goutieres syndrome 6 | BA06637 |
| F5 | Factor V deficiency | BA06638 |
| CBS | Homocystinuria | BA06639 |
| Xq21.1 | Chrosome Xq21.1 duplication syndrome | BA06640 |
| MEFV | Familial Mediterranean fever | BA06641 |
| ACSF3 | Combined malonic and methylmalonic aciduria | BA06642 |
| TMEM67 | Joubert syndrome 6 | BA06643 |
| PIGT | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | BA06644 |
| CAPN3 | Muscular dystrophy, limb-girdle | BA06645 |
| 16p13.11 (16p.13.11) | Chrosome 16p.13.11 duplication syndrome | BA06646 |
| SLC37A4 | Glycogen storage disease I | BA06647 |
| FLCN | Birt-Hogg-Dube syndrome | BA06648 |
| SLC26A2 | Diastrophic dysplasia | BA06649 |
| DUOX2 | Thyroid dyshormonogenesis 6 | BA06650 |
| PAX9 | Tooth agenesis, selective, 3 | BA06651 |
| PLA2G6 | Neurodegeneration with brain iron accumulation 2B | BA06652 |
| CRB1 | Retinitis pigmentosa | BA06653 |
| GJB1 | Charcot-Marie-Tooth neuropathy 1 | BA06654 |
| UFM1 | Leukodystrophy, hypomyelinating, 14 | BA06655 |
| COL4A3 | Alport syndrome 2 | BA06656 |
| GNE | Nonaka myopathy | BA06657 |
| ELP1 | Dysautonomia, familial | BA06658 |
| USH1C | Usher syndrome, type 1C | BA06659 |
| PGD-SEQ WT1 | Wilms tumor, type 1 | BA06660 |
| PGD-SEQ RAPSN | Fetal akinesia deformation sequence 2 | BA06661 |
| PGD-SEQ LEPR | Obesity, morbid, due to leptin receptor deficiency | BA06662 |
| PGD-SEQ SLC52A2 | Brown-Vialetto-Van Laere syndrome 2 | BA06663 |
| PGD-SEQ KCNQ1 | Long QT syndrome 1 | BA06664 |
| PGD-SEQ KRT9 | Palmoplantar keratoderma, epidermolytic | BA06665 |
| PGD-SEQ GNAS | Pseudohypoparathyroidism Ia | BA06666 |
| PGD-SEQ FLNC | Cardiomyopathy, familial hypertrophic, 26 | BA06667 |
| PGD-SEQ PRF1 | Lymphoma, non-Hodgkin | BA06668 |
| PGD-SEQ IRF6 | Popliteal pterygium syndrome 1 | BA06669 |
| PGD-SEQ COL6A2 | Ullrich congenital muscular dystrophy 1 | BA06670 |
| PGD-SEQ CDH1 | Diffuse gastric and lobular breast cancer | BA06671 |
| PGD-SEQ ABCA12 | Ichthyosis congenital | BA06672 |
| PGD-SEQ RAD51C | Susceptibility to Breast-ovarian cancer, familial | BA06673 |
| PGD-SEQ DPYD | Dihydropyrimidine dehydrogenase deficiency | BA06674 |
| PGD-SEQ PMS2 | Lynch syndrome 4 | BA06675 |
| PGD-SEQ UBE3A | Angelman syndrome | BA06676 |
| PGD-SEQ SPATA5 | Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities | BA06677 |
| PGD-SEQ MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | BA06678 |
| PGD-SEQ GLA | Fabry disease | BA06679 |
| PGD-SEQ ADGRV1 | Usher syndrome, type 2C | BA06680 |
| PGD-SEQ KIF21A | Fibrosis of extraocular muscles | BA06682 |
| PGD-SEQ PALB2 | Breast and pancreatic cancer, susceptibility to | BA06683 |
| PGD-SEQ VPS13A | Choreoacanthocytosis | BA06684 |
| PGD-SEQ IFITM5 | Osteogenesis imperfecta, type V | BA06685 |
| PGD-SEQ PRRT2 | Convulsions, familial infantile, with paroxysmal choreoathetosis | BA06686 |
| PGD-SEQ PKLR | pyruvate kinase deficiency | BA06781 |
| PGD-SEQ PEPD | Prolinasa Deficiency | BA06782 |
| PGD-SEQ ABCA4 | Stargardt disease 1 | BA06784 |
| PGD-SEQ MFN2 | Charcot-Marier:Tooth disease type 2A2 | BA06785 |
| PGD-SEQ FGFR1 | Hypogonadotropic hypogonadism 2 with or without anosmia | BA06786 |
| PGD-SEQ 12q24.33 | 12q24.33 duplication syndrome | BA06787 |
| PGD-SEQ HNF1A | Diabetes mellitus insulin-dependent | BA06788 |
| PGD-SEQ F2 | Thrombophilia 1 due to thrombin defect | BA06789 |
| PGD-SEQ FAM83H | Amelogenesis imperfecta, type IIIA | BA06790 |
| PGD-SEQ CPS1 | Carbamoylphosphate synthetase I deficiency | BA06791 |
| PGD-SEQ ATXN8OS | Spinocerebellar ataxia 8 | BA06792 |
| PGD-SEQ RBM8A | Thrombocytopenia-absent radius syndrome | BA06793 |
| PGD-SEQ RYR1 | Congenital myopathy 1B, autosomal recessive | BA06794 |
| PGD-SEQ SCN5A | Dilated cardiomyopathy 1E | BA06795 |
| PGD-SEQ AFG3L2 | Spinocerebellar ataxia 28 | BA06796 |
| PGD-SEQ SLC22A5 | Carnitine deficiency | BA06797 |
| PGD-SEQ IVD | Isovaleric acidemia | BA06798 |
| PGD-SEQ COL6A3 | Ullrich congenital muscular dystrophy 1 | BA06799 |
| PGD-SEQ SGSH | Mucopolysaccharidosis type IIIA | BA06800 |
| PGD-SEQ TAZ | Barth syndrome | BA06801 |
| PGD-SEQ IGFALS | Deficiency of acid-labile subunit | BA06802 |
| PGD-SEQ LCA5 | Leber congenital amaurosis 5 | BA06803 |
| PGD-SEQ GHR | Growth hormone insensitivity | BA06804 |
| PGD-SEQ RUNX1 | Leukemia, acute myeloid | BA06818 |
| PGD-SEQ SACS | Spastic paraplegia | BA06819 |
| PGD-SEQ RP1 | Retinitis pigmentosa 1 | BA06820 |
| PGD-SEQ MMP21 | Heterotaxy, visceral, 7, autosomal | BA06821 |
| PGD-SEQ GJB6 | Deafness | BA06822 |
| PGD-SEQ FARS2 | Combined oxidative phosphorylation deficiency 14 | BA06823 |
| PGD-SEQ EMD | Emery-Dreifuss muscular dystrophy 1, X-linked | BA06824 |
| PGD-SEQ FGF8 | Hypogonadotropic hypogonadism 6 with or without anosmia | BA06825 |
| PGD-SEQ P3H1 | Osteogenesis imperfecta, type VIII | BA06826 |
| PGD-SEQ NR2E3 | Enhanced S-cone syndrome | BA06827 |
| PGD-SEQ OTX2 | Microphthalmia, syndromic 5 | BA06828 |
| PGD-SEQ COG5 | COG5-congenital disorder of glycosylation | BA06829 |
| PGD-SEQ 15q13.3 | Chromosome 15q13.3 microdeletion syndrome | BA06830 |
| PGD-SEQ NEB | Arthrogryposis multiplex congenita 6 | BA06831 |
| PGD-SEQ COMP | Carpal tunnel syndrome 2 | BA06832 |
| PGD-SEQ ARHGEF9 | Developmental and epileptic encephalopathy 8 | BA06833 |
| PGD-SEQ NPHP1 | Joubert syndrome 4 | BA06834 |
| PGD-SEQ CHRNE | Myasthenic syndrome, congenital | BA06835 |
| PGD-SEQ CACAN1A | Developmental and epileptic encephalopathy 42 | BA06836 |
| PGD-SEQ COL4A4 | Alport syndrome 2, autosomal recessive | BA06837 |
| PGD-SEQ 1p36 | Chromosomic region | BA06838 |
| PGD-SEQ 10q26 | Chromosomic region | BA06839 |
| PGD-SEQ BCHE | Butyrylcholinesterase deficiency | BA06840 |
| PGD-SEQ CNGA3 | Achromatopsia 2 | BA06841 |
| PGD-SEQ RUNX2 | Cleidocranial dysplasia | BA06842 |
| PGD-SEQ OCA2 | Albinism | BA06843 |
| PGD-SEQ GNRHR | Hypogonadotropic hypogonadism 7 without anosmia | BA06844 |
| PGD-SEQ THOC2 | Intellectual disability | BA06845 |
| PGD-SEQ SLC16A2 | Allan-Herndon-Dudley syndrome | BA06846 |
| PGD-SEQ SMARCAL1 | Schimke immunoosseous dysplasia | BA06847 |
| PGD-SEQ DSP | Cardiomyopathy | BA06848 |
| PGD-SEQ LRP4 | Cenani-Lenz syndactyly syndrome | BA06849 |
| PGD-SEQ UMOD | Tubulointerstitial kidney disease, autosomal dominant, 1 | BA06850 |
| PGD-SEQ POMT1 | Muscular dystrophy-dystroglycanopathy | BA06851 |
| PGD-SEQ SYNGAP1 | Intellectual developmental disorder | BA06852 |
| PGD-SEQ SDHB | Paragangliomas | BA06853 |
| PGD-SEQ MUTYH | Adenomas, multiple colorectal | BA06854 |
| PGD-SEQ KEL | Kell Blood group | BA06855 |
| PGD-SEQ SLC3A1 | Cystinuria | BA06856 |
| PGD-SEQ RYR2 | Ventricular tachycardia | BA06857 |
| PGD-SEQ ARSA | Metachromatic leukodystrophy | BA06858 |
| PGD-SEQ RFX6 | Mitchell-Riley syndrome | BA06859 |
| PGD-SEQ MTM1 | Centronuclear myopathy | BA06860 |
| PGD-SEQ SDHC | Paraganglioma and gastric stromal sarcoma | BA06861 |
| PGD-SEQ MTR | Homocystinuria-megaloblastic anemia | BA06862 |
| PGD-SEQ RAD51C | Susceptibility to breast-ovarian cancer | BA06863 |
| PGD-SEQ BRAT1 | Neurodevelopmental disorder with cerebellar atrophy | BA06864 |
| PGD-SEQ FAM161A | Retinitis pigmentosa 1 | BA06865 |
| PGD-SEQ ACTG2 | Visceral myopathy 1 | BA06866 |
| PGD-SEQ TYR | Oculocutaneous albinism | BA06881 |
| PGD-SEQ SLC12A6 | Charcot-Marie-Tooth disease, axonal, type 2II | BA06882 |
| PGD-SEQ ALMS1 | Alstrom Syndrome | BA06883 |
| PGD-SEQ COL12A1 | COL12A1 disorder-related | BA06884 |
| PGD-SEQ RTTN | Microcephaly, short stature, and polymicrogyria with seizures | BA06885 |
| PGD-SEQ FTCD | Glutamate formiminotransferasa deficiency | BA06886 |
| PGD-SEQ TGFB2 | Loeys-Dietz syndrome 4 | BA06887 |
| PGD-SEQ ELN | Supravalvular aortic stenosis and cutis laxa | BA06888 |
| PGD-SEQ KCNA1 | Episodic ataxia/myokymia syndrome | BA06889 |
| PGD-SEQ SLC1A3 | Episodic ataxia, type 6 | BA06890 |
| PGD-SEQ HPA 1, 5 and 15 | Human platelet antigen system 1, 5 and 15 | BA06891 |
| PGD-SEQ TRPV4 | Scapuloperoneal spinal muscular atrophy | BA06892 |
| PGD-SEQ SCN8A | Developmental and epileptic encephalopathy 13 | BA06893 |
| PGD-SEQ SZT2 | Developmental and epileptic encephalopathy 18 | BA06894 |
| PGD-SEQ EPCAM | Lynch syndrome 8 | BA06895 |
| PGD-SEQ SCO2 | Mitochondrial complex IV deficiency, nuclear type 2 | BA06896 |
| PGD-SEQ WDR11 | Hypogonadotropic hypogonadism 14 with or without anosmia | BA06897 |
| PGD-SEQ KCNA2 | Developmental and epileptic encephalopathy 32 | BA06898 |
| PGD-SEQ BMPR1A | Polyposis, juvenile intestinal | BA06899 |
| PGD-SEQ Xp21.1 | Xp21.1 deletion syndrome | BA06900 |
| PGD-SEQ RAD21 | Cornelia de Lange syndrome 4 | BA06901 |
| PGD-SEQ SALL4 | Duane-radial ray syndrome | BA06902 |
| PGD-SEQ NBAS | Infantile liver failure syndrome 2 | BA06903 |
| PGD-SEQ F11 | Factor XI deficiency, autosomal recessive | BA06904 |
| PGD-SEQ STK11 | Melanoma, malignant, somatic | BA06905 |
| PGD-SEQ SCN1B | Developmental and epileptic encephalopathy 52, Atrial fibrillation, familial, 13 | BA06906 |
| PGD-SEQ EYA1 | Branchiootic syndrome 1 | BA06907 |
| PGD-SEQ SIX5 | Branchiootorenal syndrome 2 | BA06908 |
| PGD-SEQ 2p25.3 | 2p25.3 duplication syndrome | BA06909 |
| PGD-SEQ MTOR | Smith-Kingsmore syndrome | BA06910 |
| PGD-SEQ PTEN | Cowden syndrome 1 | BA06911 |
| PGD-SEQ SBDS | Shwachman-Diamond syndrome 1 | BA06912 |
| PGD-SEQ RARS2 | Pontocerebellar hypoplasia, type 6 | BA06913 |
| PGD-SEQ Xp22.2 | Xp22.2 duplication syndrome | BA06914 |
| PGD-SEQ AMER1 | Osteopathia striata with cranial sclerosis | BA06915 |
| PGD-SEQ IL7R | Immunodeficiency 104, severe combined | BA06916 |
| PGD-SEQ SEMA3A | Hypogonadotropic hypogonadism 16 with or without anosmia | BA06917 |
| PGD-SEQ RPE65 | Leber congenital amaurosis 2 | BA06918 |
| PGD-SEQ CC2D2A | COACH syndrome 2 | BA06919 |
| PGD-SEQ ARSE | Chondrodysplasia punctata, X-linked recessive | BA06920 |
| PGD-SEQ APOB | Hypercholesterolemia, familial, 2 | BA06921 |
| PGD-SEQ ANXA5 | Susceptibility to/Recurrent pregnancy loss | BA06923 |
| PGD-SEQ LNPK | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | BA06924 |
| PGD-SEQ ELP2 | Intellectual developmental disorder, autosomal recessive 58 | BA06925 |
| PGD-SEQ LDB3 | Cardiomyopathy, hypertrophic, 24 | BA06926 |
| PGD-SEQ AGXT | Hyperoxaluria, primary, type 1 | BA06927 |
| PGD-SEQ GPC3 | Simpson-Golabi-Behmel syndrome, type 1 | BA06928 |
| PGD-SEQ PTPN11 | Metachondromatosis | BA06929 |
| PGD-SEQ TFAP2A | Branchiooculofacial syndrome | BA06930 |
| PGD-SEQ FGF10 | Aplasia of lacrimal and salivary glands | BA06981 |
| PGD-SEQ DYSF | Muscular dystrophy, limb-girdle, autosomal recessive 2 | BA06982 |
| PGD-SEQ Xp22.3 | Xp22.3 duplication syndrome | BA06983 |
| PGD-SEQ AMT | Glycine encephalopathy 2 | BA06984 |
| PGD-SEQ ABCD1+HLA | Adrenoleukodystrophy+ HLA histocompatibility | BA06985 |
| PGD-SEQ NEXN | Cardiomyopathy, dilated, 1CC | BA06986 |
| PGD-SEQ TYMP | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | BA06987 |
| PGD-SEQ NAGA | Kanzaki disease | BA06988 |
| PGD-SEQ TRAPPC2 | Spondyloepiphyseal dysplasia tarda | BA06989 |
| PGD-SEQ TULP1 | Leber congenital amaurosis 15 | BA06990 |
| PGD-SEQ LARP7 | Alazami syndrome | BA06991 |
| PGD-SEQ SHH | Holoprosencephaly 3 | BA06992 |
| PGD-SEQ TMIE | Deafness, autosomal recessive 6 | BA06993 |
| PGD-SEQ FY | Blood group, Duffy system | BA06994 |
| PGD-SEQ TNNI3K | Cardiac conduction disease with or without dilated cardiomyopathy | BA06995 |
| PGD-SEQ 22q11.2 | 22q11.2 region | BA06996 |
| PGD-SEQ 15q26.3 | 15q26.3 deletion syndrome | BA06997 |
| PGD-SEQ ACE | Renal tubular dysgenesis | BA06998 |
| PGD-SEQ 17q12 | 17q12 deletion syndrome | BA07000 |
| PGD-SEQ OTOA | Deafness, autosomal recessive 22 | BA07001 |
| PGD-SEQ SDHD | Paraganglioma and gastric stromal sarcoma | BA07002 |
| PGD-SEQ NFU1 | Multiple mitochondrial dysfunctions syndrome 1 | BA07003 |
| PGD-SEQ NOTCH1 | Adams-Oliver syndrome 5 | BA07004 |
| PGD-SEQ CSTB | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | BA07005 |
| PGD-SEQ ALDOB | Fructose intolerance | BA07006 |
| PGD-SEQ HUWE1 | Intellectual developmental disorder, X-linked syndromic, Turner type | BA07007 |
| PGD-SEQ PHKA2 | Glycogen storage disease, type IXa2 | BA07008 |
| PGD-SEQ 12q15 | 12q15 deletion syndrome | BA07009 |
| PGD-SEQ DSPP | Dentin dysplasia, type II | BA07010 |
| PGD-SEQ CFTR 2 POOL | Cystic Fibrosis | BA07011 |
| PGD-SEQ BRCA1 2 POOL | Breast-ovarian cancer | BA07012 |
| PGD-SEQ BRCA2 2 POOL | Breast-ovarian cancer | BA07013 |
| PGD-SEQ GJB2 2 POOL | Deafness, digenic | BA07014 |
| PGD-SEQ TDRD7 | Cataract 36 | BA07015 |
| PGD-SEQ NFKB1 | Immunodeficiency, common variable, 12 | BA07016 |
| PGD-SEQ SLC6A8 | Cerebral creatine deficiency syndrome 1 | BA07018 |
| PGD-SEQ ATN1 | Dentatorubral-pallidoluysian atrophy | BA07019 |
| PGD-SEQ ANOS1 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | BA07020 |
| PGD-SEQ PRODH | Hyperprolinemia, type I | BA07021 |
| PGD-SEQ TNNC1 | Cardiomyopathy, dilated, 1Z | BA07022 |
| PGD-SEQ SMCHD1 | Bosma arhinia microphthalmia syndrome | BA07023 |
| PGD-SEQ GABBR2 | Developmental and epileptic encephalopathy 59 | BA07024 |
| PGD-SEQ WDR45 | Neurodegeneration with brain iron accumulation 5 | BA07025 |
| PGD-SEQ DelXq24 | Intellectual developmental disorder, X-linked syndromic, Cabezas type | BA07026 |
| PGD-SEQ OPN1MW | Blue cone monochromacy | BA07027 |
| PGD-SEQ JAK3 | SCID, T-negative/B-positive type | BA07028 |
| PGD-SEQ DEPDC5 | Developmental and epileptic encephalopathy 111 | BA07029 |
| PGD-SEQ 22q11.1 | Chromosome 22q11.1q11.21 Duplication | BA07030 |
| PGD-SEQ LZTR1 | Noonan syndrome 10 | BA07031 |
| PGD-SEQ STAT3 | Autoimmune disease, multisystem, infantile-onset, 1 | BA07032 |
| PGD-SEQ GIPC3 | Oculopharyngodistal myopathy 2 | BA07033 |
| PGD-SEQ MBD5 | Intellectual developmental disorder, autosomal dominant 1 | BA07034 |
| PGD-SEQ IGHMBP2 | Charcot-Marie-Tooth disease, axonal, type 2S | BA07035 |
| PGD-SEQ AMER1 | Osteopathia striata with cranial sclerosis | BA07036 |
| PGD-SEQ ITPA | Developmental and epileptic encephalopathy 35 | BA07037 |
| PGD-SEQ FOXP3 | Immunodysregulation, polyendocrinopathy, and enteropathy | BA07038 |
| PGD-SEQ AGRN | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects | BA07039 |
| PGD-SEQ TMC1 | Deafness | BA07040 |
| PGD-SEQ SNCA | Dementia | BA07041 |
| PGD-SEQ COL5A2 | Ehlers-Danlos syndrome | BA07042 |
| PGD-SEQ NKX2-5 | Atrial septal defect 7, with or without AV conduction defects | BA07043 |
| PGD-SEQ SH2D1A | Lymphoproliferative syndrome, X-linked, 1 | BA07044 |
| PGD-SEQ VAPB | Amyotrophic lateral sclerosis 8 | BA07045 |
| PGD-SEQ 10q22.1 | 10q22.1 region | BA07046 |
| PGd-SEQ MYBPC3, PLN | Hypertrophic cardiomyopathy | BA07047 |
| PGD-SEQ NDUFA4 | Mitochondrial complex IV deficiency, nuclear type 21 | BA07048 |
| PGD-SEQ 11pter | Chromosome 11 p terminal region | BA07049 |
| PGD-SEQ CYP21A2 + HLA | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency + HLA compatibility | BA07050 |
| PGD-SEQ ENPP1 | Cole disease | BA07051 |
| PGD-SEQ RINT1 | Infantile liver failure syndrome 3 | BA07052 |
| PGD-SEQ 2q13 | chromosome 2q13 | BA07053 |
| PGD-SEQ NLGN4X | Intellectual developmental disorder | BA07054 |
| PGD-SEQ PCCB | Propionicacidemia | BA07055 |
| PGD-SEQ MAP3K7 | Cardiospondylocarpofacial syndrome | BA07056 |
| PGD-SEQ AFF2 | Intellectual developmental disorder | BA07057 |
| PGD-SEQ POMT2 | Muscular dystrophy-dystroglycanopathy | BA07058 |
| PGD-SEQ MC2R | Glucocorticoid deficiency due to ACTH unresponsiveness | BA07059 |
| PGD-SEQ TBX6 | Spondylocostal dysostosis 5 | BA07060 |
| PGD-SEQ ADCY10 & DSTYK | Hypercalciuria & SPG23 | BA07061 |
| PGD-SEQ COL10A1 | Metaphyseal chondrodysplasia, Schmid type | BA07062 |
| PGD-SEQ NPHP3 | Meckel syndrome 7 | BA07063 |
| PGD-SEQ OPA1 | Mitochondrial DNA depletion syndrome 14 | BA07064 |
| PGD-SEQ SMAD3 | Loeys-Dietz syndrome 3 | BA07065 |
| PGD-SEQ SDHA | Cardiomyopathy, dilated, 1GG | BA07066 |
| PGD-SEQ G6PC1 | Glycogen storage disease Ia | BA07067 |
| PGD-SEQ GRIN1 | Developmental and epileptic encephalopathy 101 | BA07068 |
| PGD-SEQ DPYD | 5-fluorouracil toxicity | BA07069 |
| PGD-SEQ MNX1 | Currarino syndrome | BA07070 |
| PGD-SEQ EPG5 | Vici syndrome | BA07071 |
| PGD-SEQ TRAPPC11 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | BA07072 |
| PGD-SEQ BSND | Bartter syndrome, type 4a | BA07073 |
| PGD-SEQ TCF12 | Craniosynostosis 3 | BA07491 |
| PGD-SEQ PTCH1 | Basal cell nevus syndrome 1 | BA07492 |
| PGD-SEQ GATA1 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | BA07493 |
| PGD-SEQ GDAP1 | Charcot-Marie-Tooth disease | BA07494 |
| PGD-SEQ MED12 | Opitz-Kaveggia syndrome | BA07495 |
| PGD-SEQ F8 2 POOL | Hemophilia A | BA07496 |
| PGD-SEQ DMD 2 POOL | Duchenne muscular dystrophy | BA07497 |
| PGD-SEQ HBB 2 POOL | Beta thalassemia | BA07498 |
| PGD-SEQ inv9p12q13 | Inversion (9)(p12q13) | BA07499 |
| PGD-SEQ GJA5 | Atrial fibrillation, familial, 11 | BA07500 |
| PGD-SEQ GSDME | Deafness, autosomal dominant 5 | BA07501 |
| PGD-SEQ AIRE | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia | BA07502 |
| PGD-SEQ FOXL2 | Blepharophimosis, epicanthus inversus, and ptosis | BA07503 |
| PGD-SEQ ALG13 | Developmental and epileptic encephalopathy 36 | BA07505 |
| PGD-SEQ PTH1R | Chondrodysplasia, Blomstrand type | BA07506 |
| PGD-SEQ WFS1 | Wolfram syndrome 1 | BA07507 |
| PGD-SEQ 1q21.1 | 1q21.1 Region | BA07508 |
| PGD-SEQ METTL5 | Intellectual developmental disorder, autosomal recessive 72 | BA07509 |
| PGD-SEQ Xq21p11.4 | Xq21p11.4 Region | BA07510 |
| PGD-SEQ LCK | Immunodeficiency 22 | BA07511 |
| PGD-SEQ LTBP2 | Microspherophakia and/or megalocornea | BA07512 |
| PGD-SEQ CA5A | Hyperammonemia due to carbonic anhydrase VA deficiency | BA07513 |
| PGD-SEQ KRT10 | Epidermolytic hyperkeratosis | BA07514 |
| PGD-SEQ TUBB4B | Leber congenital amaurosis with early-onset deafness | BA07515 |
| PGD-SEQ AGTPBP1 | Neurodegeneration, childhood-onset, with cerebellar atrophy | BA07516 |
| PGD-SEQ MUC1 | Tubulointerstitial kidney disease, autosomal dominant, 2 | BA07517 |
| PGD-SEQ KRT17 | Pachyonychia congenita 2 | BA07518 |
| PGD-SEQ GP1BA | Bernard-Soulier syndrome | BA07519 |
| PGD-SEQ GUCY2D | Night blindness, congenital stationary | BA07520 |
| PGD-SEQ COG8 | Congenital disorder of glycosylation, type IIh | BA07521 |
| PGD-SEQ FA2H | Spastic paraplegia 35, autosomal recessive | BA07522 |
| PGD-SEQ RTEL1 | Dyskeratosis congenita, autosomal dominant 4 | BA07523 |
| PGD-SEQ TRIT1 | Combined oxidative phosphorylation deficiency 35 | BA07524 |
| PGD-SEQ GREB1L | Deafness, autosomal dominant 80 | BA07525 |
| PGD-SEQ PIEZO1 | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | BA07526 |
| PGD-SEQ PRF1 | Aplastic anemia | BA07527 |
| PGD-SEQ DCX | Lissencephaly, X-linked | BA07528 |
| PGD-SEQ FREM1 | Manitoba oculotrichoanal syndrome | BA07529 |
| PGD-SEQ OCRL | Lowe syndrome | BA07530 |
| PGD-SEQ ALG3 | Congenital disorder of glycosylation, type Id | BA07531 |
| PGD-SEQ CPT2 | CPT II deficiency | BA07532 |
| PGD-SEQ TCF12 | Craniosynostosis | BA07533 |
| PGD-SEQ CASR | Hyperparathyroidism, neonatal | BA07534 |
| PGD-SEQ OFD1 | Joubert syndrome 10 | BA07535 |
| PGD-SEQ LARP7 | Alazami syndrome | BA07536 |
| PGD-SEQ 4q35 | 4q35 region | BA07537 |
| PGD-SEQ INS | Diabetes mellitus, insulin-dependent, 2 | BA07538 |
| PGD-SEQ RMRP | Anauxetic dysplasia 1 | BA07539 |
| PGD-SEQ 6q15 | Region 6q15 | BA07540 |
| PGD-SEQ 9q13 | Region 9q13 | BA07541 |
| PGD-SEQ THG1L | Spinocerebellar ataxia, autosomal recessive 28 | BA07542 |
| PGD-SEQ RYR1 2 POOLS | Congenital myopathy | BA07543 |
| PGD-SEQ IDUA 2 POOLS | Mucopolysaccharidosis | BA07544 |
| PGD-SEQ KCNH2 2 POOLS | Short QT syndrome | BA07545 |
| PGD-SEQ FOXC2 | Lymphedema-distichiasis syndrome | BA07546 |
| PGD-SEQ FOXC2 2POOLS | Lymphedema-distichiasis syndrome | BA07547 |
| PGD-SEQ UNC119 | Cone-rod dystrophy 24 | BA07548 |
| PGD-SEQ UNC119 2POOLS | Cone-rod dystrophy 24 | BA07549 |
| PGD-SEQ FRAS1 2POOLS | Fraser syndrome 1 | BA07550 |
| PGD-SEQ LOXHD1 | Deafness, autosomal recessive 77 | BA07551 |
| PGD-SEQ LOXHD1 2 POOLS | Deafness, autosomal recessive 77 | BA07552 |
| PGD-SEQ GAA 2 POOLS | Glycogen storage disease II | BA07553 |
| PGD-SEQ OCA2 2 POOLS | Albinism | BA07554 |
| PGD-SEQ EYS 2 POOLS | Retinitis pigmentosa 25 | BA07555 |
| PGD-SEQ TMEM231 2 POOLS | Joubert syndrome 20 | BA07556 |
| PGD-SEQ GANAB 2 POOLS | Polycystic kidney disease 3 | BA07557 |
| PGD-SEQ TTN 2 POOLS | Dilated Cardiomyopathy 1G | BA07558 |
| PGD-SEQ NOTCH2 2 POOLS | Alagille syndrome 2 | BA07559 |
| PGD-SEQ KCNQ1 2 POOLS | Long QT syndrome 1 | BA07560 |
| PGD-SEQ CYP21A2 2POOLS | Congenital adrenal hyperplasia | BA07561 |
| PGD-SEQ PKD1 2 POOLS | Polycystic kidney disease 1 | BA07562 |
| PGD-SEQ NF1 2 POOLS | Neurofibromatosis type 1 | BA07563 |
| PGD-SEQ SLC26A4 2 POOLS | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | BA07564 |
| PGD-SEQ HTT 2 POOLS | Huntington | BA07565 |
| PGD-SEQ WWOX 2 POOLS | Spinocerebellar ataxia, autosomal recessive 12 | BA07566 |
| PGD-SEQ TSC2 2 POOL | Lymphangioleiomyomatosis, somatic | BA07567 |
| PGD-SEQ MYH7 2 POOLS | Miopathy | BA07568 |
| PGD-SEQ NEK1 2 POOLS | Short-rib thoracic dysplasia 6 with or without polydactyly | BA07569 |
| PGD-SEQ UBE2A 2 POOLS | Intellectual developmental disorder, X-linked syndromic, Nascimento type | BA07570 |
| PGD-SEQ POMGNT2 2 POOLS | Walker-Warburg syndrome | BA07571 |
| PGD-SEQ GBA 2 POOLS | Gaucher disease | BA07572 |
| PGD-SEQ MSH6 2 POOLS | Hereditary colorectal cancer | BA07573 |
| PGD-SEQ RAD51D 2 POOLS | Susceptibility to breast-ovarian cancer | BA07574 |
| PGD-SEQ ABCA4 2 POOLS | Stargardt disease 1 | BA07575 |
| PGD-SEQ SUCLG1 2 POOLS | Mitochondrial DNA depletion syndrome 9 | BA07576 |
| PGD-SEQ ATP7B 2 POOLS | Wilson disease | BA07577 |
| PGD-SEQ HMBS | Porphyria, acute intermittent | BA07578 |
| PGD-SEQ KIAA0753 2 POOLS | Short-rib thoracic dysplasia 21 without polydactyly | BA07579 |
| PGD-SEQ PKD2 2 POOLS | Polycystic kidney disease 2 | BA07580 |
| PGD-SEQ PKHD1 2 POOLS | Polycystic kidney disease 4, with or without hepatic disease | BA07581 |
| PGD-SEQ SPG11 2 POOLS | Amyotrophic lateral sclerosis 5, juvenile | BA07582 |
| PGD-SEQ TSEN54 2 POOLS | Pontocerebellar Hypoplasia | BA07583 |
| PGD-SEQ IL2RG 2 POOLS | X-linked combined immunodeficiency | BA07584 |
| PGD-SEQ MLH1 2 POOLS | Mismatch repair cancer syndrome | BA07585 |
| PGD-SEQ GALC 2 POOLS | Krabbe disease | BA07586 |
| PGD-SEQ FANCA 2 POOLS | Fanconi Anemia | BA07587 |
| PGD-SEQ G6PC1 2 POOLS | Glycogen storage disease Ia | BA07588 |
| PGD-SEQ COL27A1 2 POOLS | Steel syndrome | BA07589 |
| PGD-SEQ LZTR1 2 POOLS | Noonan syndrome 10 | BA07590 |
| PGD-SEQ DYNC2H1 2 POOLS | Jeune syndrome | BA07591 |
| PGD-SEQ PMS2 2 POOLS | Lynch syndrome 4 | BA07690 |
| PGD-SEQ EDA 2 POOLS | Hypohidrotic ectodermal dysplasia | BA07691 |
| PGD-SEQ OTOGL 2 POOLS | Deafness, autosomal recessive 84B | BA07692 |
| PGD-SEQ FOXP3 2 POOLS | Immunodysregulation, polyendocrinopathy, and enteropathy | BA07693 |
| PGD-SEQ XYLT1 2 POOLS | Desbuquois dysplasia 2 | BA07694 |
| PGD-SEQ MBTPS2 2 POOLS | Osteogenesis imperfecta, type XIX | BA07695 |
| PGD-SEQ PALB2 2 POOLS | Breast and pancreatic cancer, susceptibility to | BA07696 |
| PGD-SEQ ALDH4A1 2 POOLS | Hyperprolinemia, type II | BA07697 |
| PGD-SEQ CEP290 2 POOLS | Meckel-Gruber syndrome | BA07698 |
| PGD-SEQ DNAH9 2 POOLS | Ciliary dyskinesia, primary, 40 | BA07699 |
| PGD-SEQ FOXA2 2 POOLS | HEPATOCYTE NUCLEAR FACTOR 3-BETA | BA07700 |
| PGD-SEQ SGSH 2 POOLS | Mucopolysaccharidosis type IIIA | BA07701 |
| PGD-SEQ FA2H 2 POOLS | Spastic paraplegia 35, autosomal recessive | BA07702 |
| PGD-SEQ KARS1 2 POOLS | Deafness, autosomal recessive 89 | BA07703 |
| PGD-SEQ INS 2 POOLS | Diabetes mellitus, insulin-dependent, 2 | BA07704 |
| PGD-SEQ IGF2 2 POOLS | Silver-Russell syndrome 3 | BA07705 |
| PGD-SEQ IFITM2 2 POOLS | Osteogenesis imperfecta, type V | BA07706 |
| PGD-SEQ DEAF1 2 POOLS | Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures | BA07707 |
| PGD-SEQ SLC26A3 2 POOLS | Congenital secretory diarrhea, chloride type | BA07708 |
| PGD-SEQ PKLR 2 POOLS | Pyruvate kinase deficiency | BA07709 |
| PGD-SEQ LMNA 2 POOLS | Dilated cardiomyopathy | BA07710 |
| PGD-SEQ MUC1 2 POOLS | Tubulointerstitial kidney disease, autosomal dominant, 2 | BA07711 |
| PGD-SEQ MED12 2 POOLS | Opitz-Kaveggia syndrome | BA07712 |
| PGD-SEQ GJB1 2 POOLS | Charcot-Marie-Tooth neuropathy 1 | BA07713 |
| PGD-SEQ KRT14 2 POOLS | Epidermolysis bullosa simplex (KRT14) | BA07714 |
| PGD-SEQ KRT17 2 POOLS | Pachyonychia congenita 2 | BA07715 |
| PGD-SEQ ITGA2B 2 POOLS | Glanzmann thrombasthenia | BA07716 |
| PGD-SEQ GRN 2 POOLS | Frontotemporal lobar degeneration with ubiquitin-positive inclusions | BA07717 |
| PGD-SEQ ELCA2 2 POOLS | Hypertrophic cardiomyopathy | BA07718 |
| PGD-SEQ RNASEH2B 2 POOLS | Aicardi-Goutieres syndrome 2 | BA07719 |
| PGD-SEQ ACADVL 2 POOLS | VLCAD deficiency | BA07720 |
| PGD-SEQ TP53 2 POOLS | Li-Fraumeni syndrome | BA07721 |
| PGD-SEQ ALOX12P2 2 POOLS | Arachidonate Lipoxygenase 12 P2 | BA07722 |
| PGD-SEQ TMEM94 2 POOLS | Intellectual developmental disorder with cardiac defects and dysmorphic facies | BA07723 |
| PGD-SEQ ACOX1 2 POOLS | Peroxisomal acyl-CoA oxidase deficiency | BA07724 |
| PGD-SEQ SCN5A 2 POOLS | Brugada syndrome 1 | BA07725 |
| PGD-SEQ GPC3 2 POOLS | Simpson-Golabi-Behmel syndrome, type 1 | BA07726 |
| PGD-SEQ RECQL 2 POOLS | RECON progeroid syndrome | BA07727 |
| PGD-SEQ NBN 2 POOLS | Aplastic anemia | BA07728 |
| PGD-SEQ DSPP 2 POOLS | Dentin dysplasia, type II | BA07729 |
| PGD-SEQ AIMS2 2 POOLS | Progressive neurodevelopmental disorder | BA07730 |
| PGD-SEQ ABCC9 2 POOLS | Cardiomyopathy, dilated, 1O | BA07731 |
| PGD-SEQ POLG 2 POOLS | Alpers-Huttenlocher syndrome | BA07732 |
| PGD-SEQ APC 2 POOLS | Familial adenomatous polyposis (FAP) | BA07733 |
| PGD-SEQ NEB 2 POOLS | Arthrogryposis multiplex congenita 6 | BA07734 |
| PGD-SEQ Xp22.12p22.11 | Xp22.12p22.11 region | BA07735 |
| PGD-SEQ CHM 2 POOLS | Choroideremia | BA07736 |
| PGD-SEQ EMC1 2 POOLS | Cerebellar atrophy, visual impairment, and psychomotor retardation | BA07737 |
| PGD-SEQ MSH2 2 POOLS | Lynch syndrome 1 | BA07738 |
| PGD-SEQ EPCAM 2 POOLS | Diarrhea 5, with tufting enteropathy, congenital | BA07739 |
| PGD-SEQ COL4A5 2 POOLS | Alport syndrome | BA07740 |
| PGD-SEQ PLA2G6 2 POOL | Neurodegeneration with brain iron accumulation 2B | BA07741 |
| PGD-SEQ F9 2 POOLS | Hemophilia B | BA07742 |
| PGD-SEQ 1q21.1q21.2 | 1q21.1q21.2 Region | BA07743 |
| PGD-SEQ SMAD4 2 POOLS | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | BA07744 |
| PGD-SEQ POLR3A 2 POOLS | Wiedemann-Rautenstrauch syndrome | BA07745 |
| PGD-SEQ DCX 2 POOLS | Lissencephaly, X-linked | BA07746 |
| PGD-SEQ SCN1A 2 POOLS | Dravet syndrome | BA07747 |
| PGD-SEQ SCN1A | Dravet syndrome | BA07748 |
| PGD-SEQ TET3 2 POOLS | Beck-Fahrner syndrome | BA07749 |
| PGD-SEQ PEX13 2POOLS | Peroxisome biogenesis disorder | BA07750 |
| PGD-SEQ RPGR 2 POOLS | Retinitis pigmentosa 33 | BA07751 |
| PGD-SEQ DYM 2 POOLS | Dyggve-Melchior-Clausen disease | BA07752 |
| PGD-SEQ EPG5 2 POOLS | Vici syndrome | BA07753 |
| PGD-SEQ NF2 2 POOLS | Schwannomatosis | BA07754 |
| PGD-SEQ GCH1 2 POOLS | Dystonia, DOPA-responsive | BA07755 |
| PGD-SEQ DHCR7 2 POOLS | Smith-Lemli-Opitz syndrome | BA07756 |
| PGD-SEQ EXT1 2 POOLS | Exostoses type 1 | BA07757 |
| PGD-SEQ FH 2 POOLS | Hereditary leiomyomatosis and renal cell cancer | BA07758 |
| PGD-SEQ COL4A3 2 POOLS | Alport syndrome 2 | BA07759 |
| PGD-SEQ RAPSN 2 POOLS | Fetal akinesia deformation sequence 2 | BA07760 |
| PGD-SEQ CHEK2 2 POOLS | Susceptibility to breast cancer | BA07761 |
| PGD-SEQ PTCH1 2 POOLS | Basal cell nevus syndrome 1 | BA07762 |
| PGD-SEQ BOLA3 2 POOLS | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | BA07763 |
| PGD-SEQ ATM 2 POOLS | Ataxia-Telangiectasia | BA07764 |
| PGD-SEQ MEFV 2 POOLS | Familial Mediterranean fever | BA07765 |
| PGD-SEQ FBN1 2 POOLS | Marfan syndrome | BA07766 |
| PGD-SEQ LBR 2 POOLS | Greenberg skeletal dysplasia | BA07767 |
| PGD-SEQ LAMB3 2 POOLS | Junctional epidermolysis bullosa | BA07768 |
| PGD-SEQ MYH6 2 POOLS | Cardiomyopathy, dilated, 1O | BA07769 |
| PGD-SEQ HSPG2 2 POOLS | Schwartz-Jampel syndrome | BA07770 |
| PGD-SEQ ERCC8 2 POOLS | Cockayne syndrome, type A | BA07771 |
| PGD-SEQ SDHB 2 POOLS | Paragangliomas | BA07772 |
| PGD-SEQ ASS1 2 POOLS | Citrullinemia | BA07773 |
| PGD-SEQ PEX6 2 POOLS | Heimler syndrome | BA07774 |
| PGD-SEQ CPLANE1 2 POOLS | Joubert syndrome | BA07775 |
| PGD-SEQ TNXB 2 POOLS | Ehlers-Danlos syndrome | BA07776 |
| PGD-SEQ COL1A2 2 POOLS | Osteogenesis imperfecta | BA07777 |
| PGD-SEQ COL3A1 2 POOLS | Ehlers-Danlos syndrome | BA07778 |
| PGD-SEQ SLC12A3 2 POOLS | Gitelman syndrome | BA07779 |
| PGD-SEQ ALG8 2 POOLS | Congenital disorder of glycosylation | BA07780 |
| PGD-SEQ KCNJ11 2 POOLS | Neonatal diabetes mellitus | BA07781 |
| PGD-SEQ USH2A 2 POOLS | Usher Syndrome, type 2A | BA07782 |
| PGD-SEQ TUBB2A 2 POOLS | Cortical dysplasia, complex, with other brain malformations | BA07783 |
| PGD-SEQ ACVRL1 2 POOLS | Telangiectasia, hereditary hemorrhagic, type 2 | BA07784 |
| PGD-SEQ ETFDH 2 POOLS | Glutaric acidemia IIC | BA07785 |
| PGD-SEQ CYBB 2 POOLS | Chronic granulomatous disease | BA07786 |
| PGD-SEQ SIN3A 2 POOLS | Witteveen-Kolk syndrome | BA07787 |
| PGD-SEQ SCN4A 2 POOLS | Paramyotonia | BA07788 |
| PGD-SEQ TYR 2 POOLS | Oculocutaneous albinism | BA07789 |
| PGD-SEQ SREBF1 2 POOLS | Mucoepithelial dysplasia, hereditary | BA07790 |
| PGD-SEQ ARSA 2 POOLS | Metachromatic leukodystrophy | BA08670 |
| PGD-SEQ LHCGR 2 POOLS | Luteinizing hormone resistance | BA08671 |
| PGD-SEQ SARS2 2 POOLS | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | BA08672 |
| PGD-SEQ NDUFV2 2 POOLS | Mitochondrial complex I deficiency, nuclear type 7 | BA08673 |
| PGD-SEQ CTLA4 2 POOLS | Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation | BA08674 |
| PGD-SEQ HBAs 2 POOLS | Alpha thalassemia | BA08675 |
| PGD-SEQ PAX6 2 POOLS | Aniridia | BA08676 |
| PGD-SEQ RAG1 2 POOLS | Combined immunodeficiency due to RAG1 deficiency | BA08677 |
| PGD-SEQ HPS6 2 POOLS | Hermansky-Pudlak syndrome 6 | BA08678 |
| PGD-SEQ GALT 2 POOLS | Galactosemia | BA08679 |
| PGD-SEQ UGT1A1 2 POOLS | Crigler-Najjar syndrome | BA08707 |
| PGD-SEQ RET 2 POOLS | Multiple endocrine neoplasia type 2 | BA08708 |
| PGD-SEQ CTNND1 2 POOLS | Blepharocheilodontic syndrome 2 | BA08709 |
| PGD-SEQ MYO7A 2 POOLS | Deafness, autosomal dominant 11 | BA08710 |
| PGD-SEQ AGT 2 POOLS | Renal tubular dysgenesis | BA08711 |
| PGD-SEQ WBP11 2 POOLS | Vertebral, cardiac, tracheoesophageal, renal, and limb defects | BA08712 |
| PGD-SEQ ABBC6 2 POOLS | Pseudoxanthoma elasticum | BA08713 |
| PGD-SEQ COL4A4 2POOLS | Alport syndrome 2, autosomal recessive | BA08714 |
| PGD-SEQ MMACHC 2POOLS | Methylmalonic aciduria and homocystinuria, cblC type | BA08715 |
| PGD-SEQ KRT6B 2POOLS | Pachyonychia congenita 4 | BA08716 |
| PGD-SEQ SLC9A6 2 POOLS | Neurodegenerative disorder | BA08717 |
| PGD-SEQ NPHS1 2POOLS | Nephrotic syndrome type 1 | BA08718 |
| PGD-SEQ PCCB 2POOLS | Propionicacidemia | BA08719 |
| PGD-SEQ RPL5 2POOL | Diamond-Blackfan anemia 6 | BA08720 |
| PGD-SEQ NPC1 2POOLS | Niemann-Pick disease | BA08721 |
| PGD-SEQ 2p25.3 2POOLS | Intellectual developmental disorder, autosomal dominant 39 | BA08722 |
| PGD-SEQ 2pter-14q24 | (2;14)(pter;q24) translocation | BA08723 |
| PGD-SEQ TMPRSS3 2POOL | Deafness, autosomal recessive 8/10 | BA08724 |
| PGD-SEQ TYMP 2 POOLS | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | BA08725 |
| PGD-SEQ PTEN 2 POOLS | Cowden syndrome 1 | BA08726 |
| PGD-SEQ FAS 2 POOLS | Autoimmune lymphoproliferative syndrome, type IA | BA08727 |
| PGD-SEQ TMEM216 2 POOLS | Joubert syndrome 2 | BA08728 |
| PGD-SEQ BLM 2 POOLS | Bloom syndrome | BA08729 |
| PGD-SEQ APOE 2 POOLS | Alzheimer disease 2 | BA08730 |
| PGD-SEQ ATAD3A 2 POOLS | Harel-Yoon syndrome | BA08731 |
| PGD-SEQ CDH1 2POOLS | Diffuse gastric and lobular breast cancer | BA08732 |
| PGD-SEQ MTM1 2 pools | Centronuclear myopathy | BA08733 |
| PGD-SEQ PROS1 2 POOL | Thrombophilia 5 due to protein S deficiency | BA08734 |
| PGD-SEQ GMPPB 2 POOL | Muscular dystrophy-dystroglycanopathy | BA08735 |
| PGD-SEQ LDLR 2 POOL | Familial hypercholesterolemia type 1 | BA08736 |
| PGD-SEQ PTPN11 2 POOL | Metachondromatosis | BA08737 |
| PGD-SEQ BTD 2 POOL | Biotinidase deficiency | BA08738 |
| PGD-SEQ ASNS 2 POOL | Asparagine synthetase deficiency | BA08739 |
| PGD-SEQ PCSK9 2 POOL | Hypercholesterolemia, familial, 3 | BA08740 |
| PGD-SEQ SLC25A24 2 POOLS | Fontaine progeroid syndrome | BA08741 |
| PGD-SEQ BCN2 2 POOLS | Lower urinary tract obstruction, congenital | BA08742 |
| PGD-SEQ 22q13.3 | Region 22q13.3 | BA08743 |
| PGD-SEQ 19p13.1 | Region 19p13.1 | BA08744 |
| PGD-SEQ KRT16 2 POOL | Pachyonychia congenita 1 | BA08745 |
| PGD-SEQ PYGM 2 POOL | McArdle disease | BA08746 |
| PGD-SEQ ENG 2 POOL | Telangiectasia, hereditary hemorrhagic, type 1 | BA08747 |
| PGD-SEQ ROBO1 2 POOL | Neurooculorenal syndrome | BA08748 |
| PGD-SEQ RAD51C 2 POOL | Susceptibility to breast-ovarian cancer | BA08749 |
| PGD-SEQ BRIP1 2 POOL | Fanconi Anemia | BA08750 |
| PGD-SEQ GCK 2 POOL | Diabetes mellitus, noninsulin-dependent | BA08751 |
| PGD-SEQ ARSL 2 POOL | Chondrodysplasia punctata, X-linked recessive | BA08752 |
| PGD-SEQ PRNP 2 POOLS | Insomnia, fatal familial | BA08753 |
| PGD-SEQ COL7A1 2 POOLS | Dystrophic epidermolysis bullosa | BA08754 |
| PGD-SEQ PAH 2 POOL | Hyperphenylalanemia, non-PKU mild | BA08755 |
| PGD-SEQ G6PD 2 POOL | Glucose-6-phosphate dehydrogenase deficiency | BA08756 |
| PGD-SEQ WNT10A 2 POOLS | Odontoonychodermal dysplasia | BA08757 |
| PGD-SEQ 12q13.2 | 12q13.2 region | BA08758 |
| PGD-SEQ 14q12 | 14q12 region | BA08759 |
| PGD-SEQ MCPH1 2 POOLS | Primary Microcephaly 1 autosomal recessive | BA08760 |
| PGD-SEQ L1CAM 2 POOLS | Hydrocephalus | BA08761 |
| PGD-SEQ FKRP 2 POOLS | FKRP-related muscular dystrophy | BA08762 |
| PGD-SEQ ZDHHC9 2 POOLS | X-linked syndromic Raymond type intellectual developmental disorder | BA08763 |
| PGD-SEQ NARS2 2 POOLS | Combined oxidative phosphorylation deficiency 24 | BA08764 |
| PGD-SEQ PRF1 2 POOLS | Aplastic anemia | BA08765 |
| PGD-SEQ LAMA1 2 POOLS | Poretti-Boltshauser syndrome | BA08766 |
| PGD-SEQ THAP1 2 POOLS | Dystonia 6, torsion | BA08767 |
| PGD-SEQ AP4M1 2 POOLS | Spastic paraplegia | BA08768 |
| PGD-SEQ TMEM70 2 POOLS | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | BA08769 |
| PGD-SEQ NF2 2 POOLS | Schwannomatosis | BA08770 |
| PGD-SEQ PMM2 2 POOLS | Congenital disorder of glycosylation | BA08795 |
| PGD-SEQ PKD1L1 2POOLS | Heterotaxy, visceral, 8, autosomal | BA08796 |
| PGD-SEQ COL5A1 2POOLS | Ehlers-Danlos syndrome, classic type, 1 | BA08797 |
| PGD-SEQ CDKN2A | Melanoma and neural system tumor syndrome | BA08798 |
| PGD-SEQ STK11 2POOLS | Melanoma, malignant, somatic | BA08799 |
| PGD-SEQ STAT1 2POOLS | Immunodeficiency 31A, mycobacteriosis, autosomal dominant | BA08800 |
| PGD-SEQ NDP 2POOLS | Norrie disease | BA08801 |
| PGD-SEQ ANO5 2POOLS | Gnathodiaphyseal dysplasia | BA08802 |
| PGD-SEQ PLS3 2POOLS | Bone mineral density QTL18, osteoporosis | BA08803 |
| PGD-SEQ SMPD4 2POOLS | Neurodevelopmental disorder | BA08804 |
| PGD-SEQ COL2A1 2POOLS | Spondyloepiphyseal dysplasia | BA08805 |
| PGD-SEQ UMOD 2 POOLS | Tubulointerstitial kidney disease, autosomal dominant, 1 | BA08806 |
| PGD-SEQ LAMB2 2 POOLS | Pierson syndrome | BA08807 |
| PGD-SEQ GLMN 2 POOLS | Glomuvenous malformations | BA08808 |