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 |
MPZ (CMT1B) | 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 |
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 |
Custom panel | | BA04160 |
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 (9/18/2020 Luis A approved the change to Lamellar ichthyosis) | BA04631 |
CPLANE1 (C5orf42) | Joubert syndrome | BA04632 |
ADAT3 | Mental retardation | BA04633 |
ITGA2B | Glanzmann thrombasthenia | BA04634 |
TRIP11 | Achondrogenesis type 1A | BA04652 |
GRIA3 | Mental retardation | 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 |
Deletion 5p | Cri-du-chat syndrome | BA05200 |
ETFDH | Glutaric acidemia type II | BA05205 |
GBA | Gaucher disease | BA05206 |
GJB2 | Nonsyndromic Hearing Loss, DFNB1/DFNA3 | 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 | Pulmonary arterial hypertension | 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 |
SCN5A | Long QT syndrome 3 | BA05686 |
LDLR | Associated disease is Hypercholesterolemia familial 1 | BA05687 |
FMR1
| Fragile X
| BA03816
|
HPRT1
| Lesch-Nyhan syndrome
| BA05685
|
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
|
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
|
dup15q11
| Duplication of 15q 11 region
| BA06171
|
C9orf72
| Frontotemporal dementia and/or ALS 1
| BA06172
|
ENG
| Telangiectasia, hereditary hemorrhagic, type 1
| BA06173
|
ACVRL1
| Telangiectasia, hereditary hemorrhagic, type 2
| BA06174
|
MATN3
| Epiphyseal dysplasia, multiple, 5
| BA06180
|
RASPN
| 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
|
GNPAT
| Rhizomelic chondrodysplasia punctata, type 2
| BA06353
|
SLC6A8
| Cerebral creatine deficiency syndrome 1
| BA06347
|
ATXN-7
| Spinocerebellar ataxia 7
| BA06348
|
MICRO DUP
| Chromosome 16p11.2 duplication syndrome
| BA06349
|
ATP7B
| Wilson disease
| BA06350
|
SNRNP200
| Retinitis pigmentosa 33
| BA06351
|
MSH6
| Hereditary colorectal cancer
| BA06352
|
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
|
CNBP
| Myotonic dystrophy 2
| BA06360
|
USH2A
| Usher Syndrome, type 2A
| BA06361
|
MLH1
| Mismatch repair cancer syndrome
| BA06139
|
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
|
MTTL1
| MELAS syndrome
| BA06362
|
MLH1
| Mismatch repair cancer syndrome
| BA06139
|
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
|
CPABPN1
| 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
|
COL3A1
| Ehlers-Danlos syndrome, vascular type
| BA06513
|
ELANE
| Neutropenia, severe congenital 1
| BA06514
| 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
| TMEM67
| Joubert syndrome 6
| BA06643
| PIGT
| Multiple congenital anomalies-hypotonia-seizures syndrome 3
| BA06644
| CAPN3
| Muscular dystrophy, limb-girdle
| BA06645
| 16p13.11
| Chrosome 16p13.11 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
|