COL24391-pgd-seq-kit

PGD-SEQ* kits offer over 500 gene panels to research embryo status of common and rare monogenic/single-gene diseases for IVF

With the power of Ion Torrent NGS technology, a single sample can be used for both PGT-A and PGT-M IVF investigations within a simplified and integrated workflow.

Each PGD-SEQ kit contains library preparation reagents necessary to enable preimplantation genetic testing for monogenetic/single-gene disorders (PGT-M). Benefits of using targeted NGS for PGT-M include:

  • Verified for use with the Ion GeneStudio S5 System or Ion PGM System
  • Complete kit reagents and targeted PGT-M library to analyze 15 samples
  • Comprehensive familial carrier status using proprietary linkage analysis software
  • Compatible with the Ion ReproSeq PGS Kit for combined PGT-M and PGT-A analysis from a single research sample

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GeneDisease research areaPGD-SEQ Panel Cat. No.
ABCA12Ichthyosis, congenitalBA06672
ABCA3Pulmonary surfactant dysfunction due to ABCA3 deficiencyBA04838
ABCA4Stargardt disease 1BA06784
ABCB11Progressive familial intrahepatic cholestasisBA04362
ABCB4Intrahepatic cholestasis type 3BA04764
ABCC6Pseudoxanthoma elasticumBA06189
ABCC8, KCNJ11Neonatal diabetes mellitusBA05212
ABCD1Adrenoleukodystrophy X-LinkedBA03825
ABCD1+HLAAdrenoleukodystrophy+ HLA histocompatibilityBA06985
ABCG5SitosterolemiaBA04913
ABCG8Sitosterolemia 1BA06185
ACADMMedium-chain acyl-CoA dehydrogenase deficiencyBA03798
ACADSShort-chain acyl-CoA dehydrogenase (SCAD) deficiencyBA04918
ACADVLVery long-chain acyl-CoA dehydrogenase (VLCAD) deficiencyBA04572
ACERenal tubular dysgenesisBA06998
ACSF3Combined malonic and methylmalonic aciduriaBA06642
ACTA2Aortic aneurysm, familial thoracic 6BA06160
ACTG2Visceral myopathy 1BA06866
ACVRL1Telangiectasia, hereditary hemorrhagic, type 2BA06174
ADAAdenosine deaminase deficiencyBA04965
ADARAicardi-Goutières syndrome 6BA06637
ADAT3Mental retardationBA04633
ADGRG1Polymicrogyria, bilateral frontoparietalBA06030
ADGRV1Usher syndrome, type 2CBA06680
AFG3L2Spinocerebellar ataxia 28BA06796
AGLGlycogen storage disease type IIIBA04582
AGXTHyperoxaluria, primary, type 1BA06927
AHI1Joubert syndrome 3BA06167
AIMP2Progressive neurodevelopmental disorderBA04406
ALMS1Alstrom syndromeBA06883
ALOX12BSelf-healing collodion babyBA05145
ALPLHypophosphatasiaBA04804
ALS2Amyotrophic lateral sclerosis (ALS)BA04383
AMER1Osteopathia striata with cranial sclerosisBA06915
AMTGlycine encephalopathy 2BA06984
ANTXR2Hereditary systemic hyalinosisBA04277
ANXA5Susceptibility to/recurrent pregnancy lossBA06923
AP4M1Spastic paraplegiaBA05918
APCFamilial adenomatous polyposis (FAP)BA04820
APOBHypercholesterolemia, familial, 2BA06921
APRTAdenine phosphoribosyltransferase deficiencyBA06044
ARKennedy diseaseBA04573
ARHGEF9Developmental and epileptic encephalopathy 8BA06833
ARSAMetachromatic leukodystrophyBA06858
ARSBMucopolysaccharidosis type VIBA04916
ARSEChondrodysplasia punctata, X-linked recessiveBA06920
ASLArgininosuccinic AciduriaBA04901
ASPMAutosomal recessive primary microcephaly (ASPM)BA05133
ATAD3AHarel-Yoon syndromeBA06512
ATL1Spastic paraplegia type 3ABA03838
ATMAtaxia-telangiectasiaBA05916
ATP2A2Darier diseaseBA06187
ATP7BWilson diseaseBA06350
ATRXMental retardation-hypotonic facies syndrome, X-linkedBA06162
ATXN1Spinocerebellar ataxia type 1BA04402
ATXN2Spinocerebellar ataxia type 2BA04385
ATXN3Spinocerebellar ataxia 3BA05919
ATXN-7Spinocerebellar ataxia 7BA06348
ATXN8OSSpinocerebellar ataxia 8BA06792
B3GALNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11)BA06444
BBS1Bardet-Biedl syndrome 1BA06505
BBS10Bardet-Biedl syndrome 10BA03799
BBS4Bardet-Biedl syndrome 4BA04384
BCHEButyrylcholinesterase deficiencyBA06840
BCKDHBMaple syrup urine disease, type IbBA06048
BEST1Vitelliform macular dystrophyBA05246
BMPR1APolyposis, juvenile intestinalBA06899
BRAT1Neurodevelopmental disorder with cerebellar atrophyBA06864
BRCA1Breast-ovarian cancer syndromeBA04576
BRCA2Breast-ovarian cancer syndrome 2BA04603
BRIP1Fanconi anemiaBA05131
BSCL2Spastic paraplegiaBA04575
BTDBiotinidase deficiencyBA06508
BTKX-linked agammaglobulinemia (XLA)BA04964
C12orf57Temtamy syndromeBA04655
C9orf72Frontotemporal dementia and/or ALS 1BA06172
CACAN1ADevelopmental and epileptic encephalopathy 42BA06836
CACNA1ASpinocerebellar ataxia 6 (SCA6)BA06170
CACNA1SHypokalemic periodic paralysis, type 1BA06169
CAPN3Muscular dystrophy, limb-girdleBA06645
CBSHomocystinuriaBA06639
CC2D2ACOACH syndrome 2BA06919
CCM2Cerebral cavernous malformationsBA04821
CDH1Diffuse gastric and lobular breast cancerBA06671
CENPJMicrocephalyBA04386
CEP290Meckel-Gruber syndromeBA04578
CFTRCystic fibrosisBA03800
CHEK2Susceptibility to breast cancerBA05683
CHMChoroideremiaBA04388
CHRNEMyasthenic syndrome, congenitalBA06835
CHRNGMultiple pterygium syndromeBA05363
CLCN1Myotonia congenitaBA04569
CLCN5Dent disease 1BA06182
CLDN19Hypomagnesemia 5, renal, with ocular involvementBA06506
CLN3CLN3 diseaseBA04914
CNBPMyotonic dystrophy 2BA06360
CNGA3Achromatopsia 2BA06841
COG5COG5-congenital disorder of glycosylationBA06829
COG6Congenital disorder of glycosylation, type IIlBA06424
COL11A1Stickler syndromeBA03802
COL12A1COL12A1 disorder-relatedBA06884
COL1A1Osteogenesis imperfecta (COL1A1)BA03803
COL1A1Osteogenesis imperfectaBA06168
COL1A2Osteogenesis Imperfecta (COL1A2)BA05143
COL2A1Spondyloepiphyseal dysplasiaBA03804
COL3A1Ehlers-Danlos syndrome, vascular typeBA06513
COL4A3Alport syndrome 2BA06656
COL4A4Alport syndrome 2, autosomal recessiveBA06837
COL4A5Alport syndromeBA04824
COL6A1Ullrich myopathyBA04658
COL6A2Ullrich congenital muscular dystrophy 1BA06670
COL6A3Ullrich congenital muscular dystrophy 1BA06799
COL7A1Dystrophic epidermolysis bullosaBA04604
COMPCarpal tunnel syndrome 2BA06832
COQ4Primary coenzyme Q10 deficiencyBA04622
CPABPN1Oculopharyngeal muscular dystrophyBA06507
CPLANE1 (C5orf42)Joubert syndromeBA04632
CPS1Carbamoyl phosphate synthetase I deficiencyBA06791
CRB1Retinitis pigmentosaBA06653
CSF1RAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)BA04389
CYP1B1Early-onset glaucomaBA04921
CYP21A2Congenital adrenal hyperplasiaBA03805
D4Z4Facioscapulohumeral muscular dystrophy (FSHD)BA03806
DCAF17 (C2orf37)Woodhouse-Sakati syndromeBA04904
DEAF1Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizuresBA06458
15q11.2Deletion 15q11.2 (PWS/AS region)BA05211
1q21.11q21.1 microdeletionBA06166
5pCri-du-chat syndromeBA05200
DESCardiomyopathy, dilated, 1IBA06159
DHCR7Smith-Lemli-Opitz syndromeBA06356
DMDDuchenne muscular dystrophyBA03807
DMPKSteinert disease (Myotonic dystrophy type 1)BA03808
DNAH11Ciliary dyskinesia, primary, 7, with or without situs inversusBA06442
DNAH5Primary ciliary dyskinesia/heterotaxyBA04736
DNAI2Ciliary dyskinesia, primary, 9BA04966
DPYDDihydropyrimidine dehydrogenase deficiencyBA06674
DSPCardiomyopathyBA06848
DUOX2Thyroid dyshormonogenesis 6BA06650
15q11Duplication of 15q 11 regionBA06171
DYNC2H1Jeune syndromeBA03809
DYSFMuscular dystrophy, limb-girdle, autosomal recessive 2BA06982
ECEL1Distal arthrogryposis type 5DBA04898
ECHS1Mitochondrial syndromeBA04605
ECM1Lipoid proteinosisBA04732
EDAHypohidrotic ectodermal dysplasiaBA04390
ELAC2Hypertrophic cardiomyopathyBA04659
ELANENeutropenia, severe congenital 1BA06514
ELNSupravalvular aortic stenosis and cutis laxaBA06888
ELP1Dysautonomia, familialBA06658
ELP2Intellectual developmental disorder, autosomal recessive 58BA06925
EMDEmery-Dreifuss muscular dystrophy 1, X-linkedBA06824
ENGTelangiectasia, hereditary hemorrhagic, type 1BA06173
EPCAMLynch syndrome 8BA06895
ERCC8Cockayne syndrome, type ABA06358
ERFCraniosynostosisBA05137
ETFDHGlutaric acidemia type IIBA05205
EVC, EVC2Ellis-van Creveld syndromeBA03811
EXT1Exostoses type 1BA03812
EXT2Exostoses type 2BA03813
EYA1Branchiootic syndrome 1BA06907
EYSRetinitis pigmentosa 25BA06931
F11Factor XI deficiency, autosomal recessiveBA06904
F12Hereditary angioedema type 3BA06165
F2Thrombophilia 1 due to thrombin defectBA06789
F5Factor V deficiencyBA06638
F8Hemophilia ABA03814
F9Hemophilia BBA06183
FAM161ARetinitis pigmentosa 1BA06865
FAM83HAmelogenesis imperfecta, type IIIABA06790
FANCAFanconi anemiaBA05548
FARS2Combined oxidative phosphorylation deficiency 14BA06823
FBN1Marfan syndromeBA03815
FGAHereditary renal amyloidosisBA04967
FGF10Aplasia of lacrimal and salivary glandsBA06981
FGF8Hypogonadotropic hypogonadism 6 with or without anosmiaBA06825
FGFR1Hypogonadotropic hypogonadism 2 with or without anosmiaBA06786
FGFR2Crouzon syndromeBA05551
FGFR3AchondroplasiaBA04391
FHHereditary leiomyomatosis and renal cell cancer (HLRCC)BA04606
FKRPFKRP-related muscular dystrophyBA05154
FLCNBirt-Hogg-Dube syndromeBA06648
FLGIchthyosis vulgarisBA05333
FLNCCardiomyopathy, familial hypertrophic, 26BA06667
FMR1Fragile XBA03816
FTCDGlutamate formiminotransferasa deficiencyBA06886
FUSAmyotrophic lateral sclerosis (ALS)BA03817
FYBlood group, Duffy systemBA06994
G6PDGlucose-6-phosphate dehydrogenase deficiencyBA05547
GAAGlycogen storage disease IIBA06504
GALCKrabbe diseaseBA04549
GALNSMucopolysaccharidosis IVBA03818
GALTGalactosemiaBA04574
GBAGaucher diseaseBA05206
GBE1Glycogen storage disease IVBA06438
GCDHGlutaric acidemia type IBA05220
GCH1Dystonia, DOPA-responsiveBA06161
GHRGrowth hormone insensitivityBA06804
GJA1Oculodentodigital dysplasiaBA03819
GJA8CataractBA05364
GJB1Charcot-Marie-Tooth neuropathy 1BA06654
GJB2Nonsyndromic hearing Loss, DFNB1/DFNA3BA05207
GJB6DeafnessBA06822
GLAFabry diseaseBA06679
GLB1GM1 gangliosideBA04654
GLDCGlycine encephalopathyBA04657
GNASPseudohypoparathyroidism 1ABA06666
GNENonaka myopathyBA06657
GNPATRhizomelic chondrodysplasia punctata, type 2BA06353
GNRHRHypogonadotropic hypogonadism 7 without anosmiaBA06844
GORABGeroderma osteodysplasticumBA06050
GPC3Simpson-Golabi-Behmel syndrome, type 1BA06928
GRIA3Intellectual developmental disorderBA04653
GRNFrontotemporal lobar degeneration with ubiquitin-positive inclusionsBA06186
HADHALong-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyBA05288
HBA1, HBA2Alpha thalassemiaBA03864
HBBBeta thalassemiaBA03820
HBB, HLABeta thalassemia and histocompatibilityBA04819
HBB+ HBA 1-2Beta thalassemia and alpha thalassemiaBA05549
HEXATay-Sachs diseaseBA03822
HEXBSandhoff disease, infantile, juvenile, and adult formsBA06184
HFEHereditary hemochromatosis type 1BA05684
HLAHistocompatibilityBA03823
HMGCLHMGCL deficiencyBA04725
HNF1ADiabetes mellitus insulin-dependentBA06788
HNF1BRenal cysts and diabetes syndromeBA04392
HPA 1, 5 and 15Human platelet antigen system 1, 5 and 15BA06891
HPRT1Lesch-Nyhan syndromeBA05685
HTTHuntingtonBA03821
IDSMucopolysaccharidosis type II (MPS II–Hunter syndrome)BA04681
IDUAMucopolysaccharidosis type I (MPS I)BA05168
IFITM5Osteogenesis imperfecta, type VBA06685
IGFALSDeficiency of acid-labile subunitBA06802
IKBKGIncontinentia pigmentiBA05536
IL2RGX-linked combined immunodeficiencyBA03824
IL7RImmunodeficiency 104, severe combinedBA06916
IRF6Popliteal pterygium syndrome 1BA06669
ITGA2BGlanzmann thrombastheniaBA04634
IVDIsovaleric acidemiaBA06798
KCNA1Episodic ataxia/myokymia syndromeBA06889
KCNA2Developmental and epileptic encephalopathy 32BA06898
KCNH2Short QT syndromeBA04825
KCNQ1Long QT syndrome 1BA06664
KCNT1KCNT1-Related epilepsyBA05139
KDM6AKabuki syndromeBA05135
KELKell Blood groupBA06855
KIF1CSpastic ataxia 2, autosomal recessiveBA06440
KIF21AFibrosis of extraocular musclesBA06682
KMT2BDystonia 28, childhood-onsetBA05921
KMT2DKabuki syndrome (KMT2D)BA05208
KRT14Epidermolysis bullosa simplex (KRT14)BA05366
KRT5Epidermolysis bullosa simplex (KRT5)BA05365
KRT9Palmoplantar keratoderma, epidermolyticBA06665
L1CAMHydrocephalusBA04382
LAMA2LAMA2-related muscular dystrophyBA04588
LAMA3Epidermolysis bullosaBA04584
LAMB3Junctional epidermolysis bullosaBA03826
LARP7Alazami syndromeBA06991
LCA5Leber congenital amaurosis 5BA06803
LDB3Cardiomyopathy, hypertrophic, 24BA06926
LDLRHypercholesterolemia familial 1BA05687
LEPRObesity, morbid, due to leptin receptor deficiencyBA06662
LIPHAutosomal recessive hypotrichosisBA04726
LMNADilated cardiomyopathyBA03827
LNPKNeurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosumBA06924
LRP4Cenani-Lenz syndactyly syndromeBA06849
MATN3Epiphyseal dysplasia, multiple, 5BA06180
MCCC23-methylcrotonyl-CoA carboxylase 2 deficiencyBA05552
MEFVFamilial Mediterranean feverBA06641
MEN1Multiple endocrine neoplasiaBA03829
MFN2Charcot-Marie-Tooth disease type 2A2BA06785
MKS1Meckel Gruber syndromeBA04403
MLH1Mismatch repair cancer syndromeBA06139
MLH1Mismatch repair cancer syndromeBA06139
MMABMethylmalonic AcidemiaBA04899
MMACHCMethylmalonic aciduria and homocystinuria, cblC typeBA06678
MMP21Heterotaxy, visceral, 7, autosomalBA06821
MPDZHydrocephalus, congenital, 2BA05367
MPZ (CMT1B)Charcot-Marie-Tooth type 1BBA03801
MSH2Lynch syndromeBA03828
MSH6Hereditary colorectal cancerBA06352
MSH6Hereditary colorectal cancerBA06352
MTHFRHomocystinuriaBA06188
MTM1Centronuclear myopathyBA06860
MTORSmith-Kingsmore syndromeBA06910
MTRHomocystinuria-megaloblastic anemiaBA06862
MTTL1MELAS syndromeBA06362
MUTYHAdenomas, multiple colorectalBA06854
MYBPC3Hypertrophic cardiomyopathyBA04393
MYH7MiopathyBA04394
MYL2Hypertrophic cardiomyopathy 10BA06503
MYO7ADeafness, autosomal dominant 11BA06027
NAGAKanzaki diseaseBA06988
NBASInfantile liver failure syndrome 2BA06903
NDUFS8Mitochondrial complex I deficiency, nuclear type 2BA06054
NEBArthrogryposis multiplex congenita 6BA06831
NEXNCardiomyopathy, dilated, 1CCBA06986
NF1Neurofibromatosis type 1BA04577
NOGMultiple synostoses syndrome 1BA06058
NOTCH3CADASILBA03830
NPC1Niemann-Pick disease (NPC1)BA05242
NPHP1Joubert syndrome 4BA06834
NPHS2Nephrotic syndrome, type 2BA05209
NPPAAtrial fibrillation, familialBA05368
NR2E3Enhanced S-cone syndromeBA06827
NSD1Sotos syndromeBA04905
NUBPLMitochondrial complex I deficiency, nuclear type 21BA06039
OCA2AlbinismBA06843
OSTM1Osteopetrosis, AR 5BA04730
OTCOrnithine transcarbamylase deficiencyBA03831
OTOADeafness, autosomal recessive 22BA07001
OTOFDFNB9 nonsyndromic hearing lossBA04822
OTX2Microphthalmia, syndromic 5BA06828
P3H1Osteogenesis imperfecta, type VIIIBA06826
PAHPulmonary arterial hypertensionBA05550
PALB2Susceptibility to breast and pancreatic cancerBA06683
PAX6AniridiaBA04395
PAX9Tooth agenesis, selective, 3BA06651
PCNTMicrocephalic osteodysplastic primordial dwarfism, type IIBA06510
PDE6CAchromatopsia/cone-rod dystrophyBA04735
PEPDProlinasa deficiencyBA06782
PEX1Peroxisome biogenesis disorder 1A (Zellweger)BA06500
PEX16Zellweger syndromeBA04579
PEX2Zellweger syndrome (PEX2)BA05369
PHEXHypophosphatemic ricketsBA04571
PHKBGlycogen storage disease type IXBA04727
PIGTMultiple congenital anomalies-hypotonia-seizures syndrome 3BA06644
PKD1Polycystic kidney disease 1BA03832
PKD2Polycystic kidney disease 2BA03833
PKHD1Polycystic kidney disease ARBA03834
PKLRPyruvate kinase deficiencyBA06781
PKP2Arrhythmogenic right ventricular dysplasia 9BA05920
PLA2G6Neurodegeneration with brain iron accumulation 2BBA06652
PLP1Pelizaeus-Merzbacher diseaseBA04404
PMM2Congenital disorder of glycosylationBA04387
PMP22 (CMT1A)Charcot-Marie-Tooth type 1A and 1EBA04396
PMS2Lynch syndrome 4BA06675
PNKPCharcot-Marie-Tooth disease, type 2B2BA06163
POC1AShort stature, onychodysplasia, facial dysmorphism, and hypotrichosisBA06433
POLD1Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndromeBA06453
POLGAlpers-Huttenlocher syndromeBA05170
POMGNT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3BA06427
POMGNT2Walker-Warburg syndromeBA04656
POMKMuscular dystrophy-dystroglycanopathyBA03785
POMT1Muscular dystrophy-dystroglycanopathyBA06851
PPP1R21Decreased viabilityBA06034
PPP2R2BSpinocerebellar ataxia 12BA06359
PRF1Lymphoma, non-HodgkinBA06668
PRKG1Aortic aneurysm, familial thoracicBA05370
PRPH2Stargardt diseaseBA04607
PRRT2Convulsions, familial infantile, with paroxysmal choreoathetosisBA06686
PTENCowden syndrome 1BA06911
PTF1APancreatic agenesis 2BA04922
PTPN11MetachondromatosisBA06929
RAB3GAP1RAB18 deficiencyBA04728
RAD21Cornelia de Lange syndrome 4BA06901
RAD51CSusceptibility to breast-ovarian cancer, familialBA06673
RAD51CSusceptibility to breast-ovarian cancerBA06863
RAG1Combined immunodeficiency due to RAG1 deficiencyBA05147
RAG2Omenn syndromeBA05210
RAPSNFetal akinesia deformation sequence 2BA06661
RARS2Pontocerebellar hypoplasia, type 6BA06913
RASPNFetal akinesia deformation sequence 2BA06181
RB1RetinoblastomaBA04586
RBM8AThrombocytopenia-absent radius syndromeBA06793
RERENeurodevelopmental syndromeBA05917
RETMultiple endocrine neoplasia type 2BA03835
RFX6Mitchell-Riley syndromeBA06859
RHBlood group, RH systemBA06355
RHORetinitis pigmentosaBA03836
RMRPCartilage-hair hypoplasiaBA06817
RP1Retinitis pigmentosa 1BA06820
RPE65Leber congenital amaurosis 2BA06918
RPGRRetinitis pigmentosa 33BA06357
RPGRIP1Leber congenital amaurosisBA04734
RS1RetinoschisisBA06681
RTTNMicrocephaly, short stature, and polymicrogyria with seizuresBA06885
RUNX1Leukemia, acute myeloidBA06818
RUNX2Cleidocranial dysplasiaBA06842
RYR1Central core diseaseBA03837
RYR1Congenital myopathy 1B, autosomal recessiveBA06794
RYR2Ventricular tachycardiaBA06857
SACSSpastic paraplegiaBA06819
SALL4Duane-radial ray syndromeBA06902
SATB2Glass syndromeBA06354
SBDSShwachman-Diamond syndrome 1BA06912
SCN10AEpisodic pain syndrome, familial, 2BA06429
SCN1BDevelopmental and epileptic encephalopathy 52, atrial fibrillation, familial, 13BA06906
SCN4AParamyotoniaBA04587
SCN5ALong QT syndrome 3BA05686
SCN5ADilated cardiomyopathy 1EBA06795
SCN8ADevelopmental and epileptic encephalopathy 13BA06893
SCO2Mitochondrial complex IV deficiency, nuclear type 2BA06896
SDHBParagangliomasBA06853
SDHCParaganglioma and gastric stromal sarcomaBA06861
SEMA3AHypogonadotropic hypogonadism 16 with or without anosmiaBA06917
SERPINA1Alpha-1 antitrypsin deficiencyBA05233
SERPING1Angioedema, hereditary, 1 and 2BA06509
SETD5Mental retardation, autosomal dominant 23BA06041
SGCAMuscular dystrophy, limb-girdle, autosomal recessive 3BA06420
SGSHMucopolysaccharidosis type IIIABA06800
SH3TC2Charcot-Marie-Tooth disease, type 4CBA06435
SHHHoloprosencephaly 3BA06992
SIX5Branchio-oto-renal syndrome 2BA06908
SLC12A1Bartter syndrome type IBA05371
SLC12A3Gitelman syndromeBA06455
SLC12A6Charcot-Marie-Tooth disease, axonal, type 2IIBA06882
SLC13A5Epileptic encephalopathy, early infantile, 25BA04902
SLC16A2Allan-Herndon-Dudley syndromeBA06846
SLC1A3Episodic ataxia, type 6BA06890
SLC22A5Carnitine deficiencyBA06797
SLC26A2Diastrophic dysplasiaBA06649
SLC26A3Congenital secretory diarrhea, chloride typeBA04763
SLC26A4Deafness, autosomal recessive 4, with enlarged vestibular aqueductBA06449
SLC2A2Fanconi-Bickel syndromeBA04915
SLC37A4Glycogen storage disease IBA06647
SLC3A1CystinuriaBA06856
SLC45A2Oculocutaneous albinismBA04920
SLC52A2Brown-Vialetto-Van Laere syndrome 2BA06663
SLC5A7Myasthenic syndrome, congenital, 20, presynapticBA04731
SLC6A8Cerebral creatine deficiency syndrome 1BA06347
SLC6A8Cerebral creatine deficiency syndrome 1BA06347
SMARCAL1Schimke immuno-osseous dysplasiaBA06847
SMN1Spinal muscular atrophyBA03784
SMPD1Niemann-Pick disease (SMPD1)BA04660
SNRNP200Retinitis pigmentosa 33BA06351
SNRNP200Retinitis pigmentosa 33BA06351
SOX6Tolchin-Le Caignec syndromeBA06046
SPASTSpastic paraplegia type 4BA04397
SPATA5Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalitiesBA06677
STK11Melanoma, malignant, somaticBA06905
STXBP2Familial hemophagocytic lymphohistiocytosisBA04900
SYNGAP1Intellectual developmental disorderBA06852
SZT2Developmental and epileptic encephalopathy 18BA06894
TAZBarth syndromeBA06801
TBC1D7Macrocephaly/megalencephaly syndrome, ARBA04903
TBCEKenny-Caffey syndrome type 1BA04919
TBCKHypotonia, infantile, with psychomotor retardation and characteristic facies 3BA06052
TBX5Holt-Oram syndromeBA03839
TCOF1Treacher-Collins syndromeBA03840
TCTN2Joubert syndromeBA04826
TFAP2ABranchio-oculofacial syndromeBA06930
TGFB2Loeys-Dietz syndrome 4BA06887
TGFBR1Loeys-Dietz syndromeBA04398
TGM1Lamellar ichthyosisBA04631
THOC2Intellectual disabilityBA06845
TMEM216Joubert syndrome 2 / Meckel syndrome 2BA06501
TMEM67Joubert syndrome 6BA06643
TMIEDeafness, autosomal recessive 6BA06993
TNFSF11Osteopetrosis, autosomal recessive 2BA06032
TNNI3KCardiac conduction disease with or without dilated cardiomyopathyBA06995
TNNT2Dilated cardiomyopathyBA04570
TNXBEhlers-Danlos syndrome, classical-likeBA04405
TP53Li-Fraumeni syndromeBA04399
TRAPPC2Spondyloepiphyseal dysplasia tardaBA06989
TREX1Aicardi-Goutières syndromeBA05141
TRIP11Achondrogenesis type 1ABA04652
TRPV4Scapuloperoneal spinal muscular atrophyBA06892
TSC1Tuberous sclerosisBA03841
TSC2Lymphangioleiomyomatosis, somaticBA06922
TSEN54Pontocerebellar hypoplasiaBA04845
TTNDilated cardiomyopathy 1GBA06502
TTRTransthyretin amyloidosisBA05215
TULP1Leber congenital amaurosis 15BA06990
TUSC3Mental retardation, autosomal recessive 7BA04733
TWIST1Saethre-Chotzen syndromeBA03842
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type)BA06987
TYROculocutaneous albinismBA06881
UBA5Developmental and epileptic encephalopathy 44BA06037
UBE3AAngelman syndromeBA06676
UFM1Leukodystrophy, hypomyelinating, 14BA06655
UMODTubulointerstitial kidney disease, autosomal dominant, 1BA06850
UNC13DHemophagocytic lymphohistiocytosis 3BA03843
UPB1Beta-ureidopropionase deficiencyBA05328
USH1CUsher syndrome, type 1CBA06659
USH2AUsher syndrome, type 2ABA06361
VHLVon Hippel-Lindau syndromeBA04400
VPS13AChoreoacanthocytosisBA06684
VPS13BCohen syndromeBA04401
WASWiskott-Aldrich syndromeBA04823
WDR11Hypogonadotropic hypogonadism 14 with or without anosmiaBA06897
WDR62Autosomal recessive primary microcephaly (WDR62)BA04762
WNT10AOdonto-onycho-dermal dysplasiaBA06164
WNT2BDiarrhea 9BA06511
WT1Wilms tumor, type 1BA06660
WWOXSpinocerebellar ataxia, AR 12BA04917
Xp21.1Xp21.1 deletion syndromeBA06900
Xp22.2Xp22.2 duplication syndromeBA06914
Xp22.3Xp22.3 duplication syndromeBA06983
Xq21.1Chromosome Xq21.1 duplication syndromeBA06640
ZFYVE26Spastic paraplegia 15, autosomal recessiveBA06447
10q26Chromosomic regionBA06839
12q24.3312q24.33 duplication syndromeBA06787
15q13.3Chromosome 15q13.3 microdeletion syndromeBA06830
15q26.315q26.3 deletion syndromeBA06997
16p11.216p11.2 microduplicationBA06349
16p13.11Chromosome 16p13.11 duplication syndromeBA06646
17q1217q12 deletion syndromeBA07000
1p36Chromosomic regionBA06838
22q11.222q11.2 deletion syndromeBA06996
2p25.32p25.3 duplication syndromeBA06909

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Luis Alcaraz

Simplified preimplantation genetic testing workflow on a single embryo biopsy

Luis Alcaraz, PhD
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RH Preimplantation Genetic Testing

Simultaneously research PGT-A and PGT-M in the same NGS workflow from a single sample

Combine the PGD-SEQ kit with Ion ReproSeq PGS kit using the Ion GeneStudio S5 System for a simple, scalable and automated sample-to-answer workflow solution that includes PGT-M and PGT-A results from single research sample.
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