COL24391-pgd-seq-kit

PGD-SEQ* kits offer over 300 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.
SMN1Spinal muscular atrophyBA03784
POMKMuscular dystrophy-dystroglycanopathyBA03785
ACADMMedium chain acyl-CoA dehydrogenase deficiencyBA03798
BBS10Bardet-Biedl syndrome 10BA03799
CFTRCystic fibrosisBA03800
MPZ (CMT1B)Charcot-Marie-Tooth type 1BBA03801
COL11A1Stickler syndromeBA03802
COL1A1Osteogenesis imperfecta (COL1A1)BA03803
COL2A1Spondyloepiphyseal dysplasiaBA03804
CYP21A2Congenital adrenal hyperplasiaBA03805
D4Z4Facioscapulohumeral muscular dystrophy (FSHD)BA03806
DMDDuchenne muscular dystrophyBA03807
DMPKSteinert disease (Myotonic dystrophy type 1)BA03808
DYNC2H1Jeune syndromeBA03809
EVC, EVC2Ellis-van Creveld syndromeBA03811
EXT1Exostoses type 1BA03812
EXT2Exostoses type 2BA03813
F8Hemophilia ABA03814
FBN1Marfan syndromeBA03815
FUSAmyotrophic lateral sclerosis (ALS)BA03817
GALNSMucopolysaccharidosis IVBA03818
GJA1Oculodentodigital dysplasiaBA03819
HBBBeta thalassemiaBA03820
HTTHuntingtonBA03821
HEXATay-Sachs diseaseBA03822
HLAHistocompatibilityBA03823
IL2RGX-linked combined immunodeficiencyBA03824
ABCD1Adrenoleukodystrophy X-LinkedBA03825
LAMB3Junctional epidermolysis bullosaBA03826
LMNADilated cardiomyopathyBA03827
MSH2Lynch syndromeBA03828
MEN1Multiple endocrine neoplasiaBA03829
NOTCH3CADASILBA03830
OTCOrnithine transcarbamylase deficiencyBA03831
PKD1Polycystic kidney disease 1BA03832
PKD2Polycystic kidney disease 2BA03833
PKHD1Polycystic kidney disease ARBA03834
RETMultiple endocrine neoplasia type 2BA03835
RHORetinitis pigmentosaBA03836
RYR1Central core diseaseBA03837
ATL1Spastic paraplegia type 3ABA03838
TBX5Holt-Oram syndromeBA03839
TCOF1Treacher-Collins syndromeBA03840
TSC1Tuberous sclerosisBA03841
TWIST1Saethre-Chotzen syndromeBA03842
UNC13DHemophagocytic lymphohistiocytosis 3BA03843
HBA1, HBA2Alpha thalassemiaBA03864
Custom panelBA04160
ANTXR2Hereditary systemic hyalinosisBA04277
ABCB11Progressive familial intrahepatic cholestasisBA04362
L1CAMHydrocephalusBA04382
ALS2Amyotrophic lateral sclerosis (ALS)BA04383
BBS4Bardet-Biedl syndrome 4BA04384
ATXN2Spinocerebellar ataxia type 2BA04385
CENPJMicrocephalyBA04386
PMM2Congenital disorder of glycosylationBA04387
CHMChoroideremiaBA04388
CSF1RAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP )BA04389
EDAHypohidrotic ectodermal dysplasiaBA04390
FGFR3AchondroplasiaBA04391
HNF1BRenal cysts and diabetes syndromeBA04392
MYBPC3Hypertrophic cardiomyopathyBA04393
MYH7MiopathyBA04394
PAX6AniridiaBA04395
PMP22 (CMT1A)Charcot-Marie-Tooth type 1A and 1EBA04396
SPASTSpastic paraplegia type 4BA04397
TGFBR1Loeys-Dietz syndrome BA04398
TP53Li-Fraumeni syndromeBA04399
VHLVon Hippel-Lindau syndromeBA04400
VPS13BCohen syndromeBA04401
ATXN1Spinocerebellar ataxia type 1BA04402
MKS1Meckel Gruber syndromeBA04403
PLP1Pelizaeus-Merzbacher diseaseBA04404
TNXBEhlers-Danlos syndrome, classical-likeBA04405
AIMP2Progressive neurodevelopmental disorderBA04406
GALCKrabbe diseaseBA04549
CLCN1Myotonia congenitaBA04569
TNNT2Dilated cardiomyopathyBA04570
PHEXHypophosphatemic ricketsBA04571
ACADVLVery long-chain acyl-CoA dehydrogenase (VLCAD) deficiencyBA04572
ARKennedy diseaseBA04573
GALTGalactosemiaBA04574
BSCL2Spastic paraplegiaBA04575
BRCA1Breast-ovarian cancer syndromeBA04576
NF1Neurofibromatosis type 1BA04577
CEP290Meckel-Gruber syndromeBA04578
PEX16Zellweger syndromeBA04579
AGLGlycogen storage disease type IIIBA04582
LAMA3Epidermolysis bullosaBA04584
RB1RetinoblastomaBA04586
SCN4AParamyotoniaBA04587
LAMA2LAMA2-related muscular dystrophyBA04588
BRCA2Breast-ovarian cancer syndrome 2 BA04603
COL7A1Dystrophic epidermolysis bullosaBA04604
ECHS1Mitochondrial syndrome BA04605
FHHereditary leiomyomatosis and renal cell cancer (HLRCC)BA04606
PRPH2Stargardt diseaseBA04607
COQ4Primary coenzyme Q10 deficiencyBA04622
TGM1Hereditary ichthyosis (9/18/2020 Luis A approved the change to Lamellar ichthyosis)BA04631
CPLANE1 (C5orf42)Joubert syndromeBA04632
ADAT3Mental retardationBA04633
ITGA2BGlanzmann thrombastheniaBA04634
TRIP11Achondrogenesis type 1ABA04652
GRIA3Mental retardationBA04653
GLB1GM1 gangliosideBA04654
C12orf57Temtamy syndromeBA04655
POMGNT2Walker-Warburg syndromeBA04656
GLDCGlycine encephalopathyBA04657
COL6A1Ullrich myopathyBA04658
ELAC2Hypertrophic cardiomyopathyBA04659
SMPD1Niemann-Pick disease (SMPD1)BA04660
IDSMucopolysaccharidosis type II (MPS II - Hunter syndrome)BA04681
HMGCLHMGCL deficiencyBA04725
LIPHAutosomal recessive hypotrichosisBA04726
PHKBGlycogen storage disease type IXBA04727
RAB3GAP1 RAB18 deficiencyBA04728
OSTM1Osteopetrosis, AR 5BA04730
SLC5A7Myasthenic syndrome, congenital, 20, presynapticBA04731
ECM1Lipoid proteinosisBA04732
TUSC3Mental retardation, autosomal recessive 7BA04733
RPGRIP1 Leber congenital amaurosisBA04734
PDE6CAchromatopsia / Cone-rod dystrophyBA04735
DNAH5Primary ciliary dyskinesia/HeterotaxyBA04736
WDR62Autosomal recessive primary microcephaly (WDR62)BA04762
SLC26A3Congenital secretory diarrhea, chloride typeBA04763
ABCB4Intrahepatic cholestasis type 3BA04764
ALPLHypophosphatasiaBA04804
HBB, HLABeta-thalassemia & HistocompatibilityBA04819
APCFamilial adenomatous polyposis (FAP)BA04820
CCM2Cerebral cavernous malformationsBA04821
OTOFDFNB9 Nonsyndromic Hearing LossBA04822
WASWiskott-Aldrich syndromeBA04823
COL4A5Alport syndromeBA04824
KCNH2Short QT syndromeBA04825
TCTN2Joubert syndromeBA04826
ABCA3Pulmonary surfactant dysfunction due to ABCA3 deficiencyBA04838
TSEN54Pontocerebellar HypoplasiaBA04845
ECEL1Distal arthrogryposis type 5DBA04898
MMABMethylmalonic AcidemiaBA04899
STXBP2Familial hemophagocytic lymphohistiocytosisBA04900
ASLArgininosuccinic AciduriaBA04901
SLC13A5Epileptic encephalopathy, early infantile, 25BA04902
TBC1D7Macrocephaly/megalencephaly syndrome, ARBA04903
DCAF17 (C2orf37)Woodhouse-Sakati syndromeBA04904
NSD1Sotos syndromeBA04905
ABCG5SitosterolemiaBA04913
CLN3CLN3 diseaseBA04914
SLC2A2Fanconi-Bickel syndromeBA04915
ARSBMucopolysaccharidosis type VIBA04916
WWOXSpinocerebellar ataxia, AR 12BA04917
ACADSShort-chain acyl-CoA dehydrogenase (SCAD) deficiencyBA04918
TBCEKenny-Caffey syndrome type 1BA04919
SLC45A2Oculocutaneous albinismBA04920
CYP1B1Early-onset glaucomaBA04921
PTF1APancreatic agenesis 2BA04922
BTKX-linked agammaglobulinemia (XLA)BA04964
ADAAdenosine deaminase deficiencyBA04965
DNAI2Ciliary dyskinesia, primary, 9BA04966
FGAHereditary renal amyloidosisBA04967
BRIP1Fanconi AnemiaBA05131
ASPMAutosomal Recessive Primary Microcephaly (ASPM)BA05133
KDM6AKabuki syndromeBA05135
ERFCraniosynostosisBA05137
KCNT1KCNT1-Related EpilepsyBA05139
TREX1Aicardi-Goutières syndromeBA05141
COL1A2Osteogenesis Imperfecta (COL1A2)BA05143
ALOX12BSelf-healing collodion babyBA05145
RAG1Combined immunodeficiency due to RAG1 deficiencyBA05147
FKRPFKRP-related muscular dystrophyBA05154
IDUAMucopolysaccharidosis type I (MPS I)BA05168
POLGAlpers-Huttenlocher syndromeBA05170
Deletion 5pCri-du-chat syndromeBA05200
ETFDHGlutaric acidemia type IIBA05205
GBAGaucher diseaseBA05206
GJB2Nonsyndromic Hearing Loss, DFNB1/DFNA3BA05207
KMT2DKabuki Syndrome (KMT2D)BA05208
NPHS2Nephrotic syndrome, type 2BA05209
RAG2Omenn syndromeBA05210
Deletion 15q11.2Deletion 15q11.2 (PWS/AS region)BA05211
ABCC8, KCNJ11Neonatal diabetes mellitusBA05212
TTRTransthyretin AmyloidosisBA05215
GCDHGlutaric acidemia type IBA05220
SERPINA1Alpha-1 antitrypsin deficiencyBA05233
NPC1Niemann-Pick disease (NPC1)BA05242
BEST1Vitelliform macular dystrophyBA05246
HADHALong-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyBA05288
UPB1Beta-ureidopropionase deficiencyBA05328
FLGIchthyosis vulgarisBA05333
CHRNGMultiple pterygium syndromeBA05363
GJA8CataractBA05364
KRT5Epidermolysis bullosa simplex (KRT5)BA05365
KRT14Epidermolysis bullosa simplex (KRT14)BA05366
MPDZHydrocephalus, congenital, 2BA05367
NPPAAtrial fibrillation, familialBA05368
PEX2Zellweger syndrome (PEX2)BA05369
PRKG1Aortic aneurysm, familial thoracicBA05370
SLC12A1Bartter syndrome type IBA05371
IKBKGIncontinentia PigmentiBA05536
G6PDGlucose-6-phosphate dehydrogenase deficiencyBA05547
FANCAFanconi AnemiaBA05548
HBB+ HBA 1-2Beta thalassemia & Alpha thalassemiaBA05549
PAHPulmonary arterial hypertensionBA05550
FGFR2Crouzon syndromeBA05551
MCCC23-Methylcrotonyl-CoA Carboxylase 2 DeficiencyBA05552
CHEK2Susceptibility to breast cancerBA05683
HFEHereditary Hemochromatosis type 1BA05684
SCN5ALong QT syndrome 3BA05686
LDLRAssociated disease is Hypercholesterolemia familial 1BA05687
FMR1 Fragile X BA03816
HPRT1 Lesch-Nyhan syndrome BA05685
ATM Ataxia-Telangiectasia  BA05916
RERE Neurodevelopmental syndrome BA05917
AP4M1 Spastic paraplegia BA05918
ATXN3Spinocerebellar 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

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Luis Alcaraz

Simplified preimplantation genetic testing workflow on a single embryo biopsy

Luis Alcaraz, PhD
Co-founder, Scientific and Laboratory Director
Bioarray

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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