COL24391-pgd-seq-kit

PGD-SEQ* kits offer over 200 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
Complete PGD-SEQ panel menu

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GeneDisease research areaPGD-SEQ Panel Cat. No.
SMN1 Spinal muscular atrophyBA03784
POMK Muscular dystrophy-dystroglycanopathyBA03785
ACADM Medium chain acyl-CoA dehydrogenase deficiencyBA03798
BBS10 Bardet-Biedl syndrome 10BA03799
CFTR Cystic fibrosisBA03800
MPZ (CMT1B) Charcot-Marie-Tooth type 1BBA03801
COL11A1 Stickler syndromeBA03802
COL1A1 Osteogenesis imperfecta (COL1A1)BA03803
COL2A1 Spondyloepiphyseal dysplasiaBA03804
CYP21A2 Congenital adrenal hyperplasiaBA03805
D4Z4 Facioscapulohumeral muscular dystrophy (FSHD)BA03806
DMD Duchenne muscular dystrophyBA03807
DMPK Steinert disease (Myotonic dystrophy type 1)BA03808
DYNC2H1 Jeune syndromeBA03809
EVC, EVC2 Ellis-van Creveld syndromeBA03811
EXT1 Exostoses type 1BA03812
EXT2 Exostoses type 2BA03813
F8 Hemophilia ABA03814
FBN1 Marfan syndromeBA03815
FUS Amyotrophic lateral sclerosis (ALS)BA03817
GALNS Mucopolysaccharidosis IVBA03818
GJA1 Oculodentodigital dysplasiaBA03819
HBB Beta thalassemiaBA03820
HTT HuntingtonBA03821
HEXA Tay-Sachs diseaseBA03822
HLA HistocompatibilityBA03823
IL2RG X-linked combined immunodeficiencyBA03824
ABCD1 Adrenoleukodystrophy X-LinkedBA03825
LAMB3 Junctional epidermolysis bullosaBA03826
LMNA Dilated cardiomyopathyBA03827
MSH2 Lynch syndromeBA03828
MEN1 Multiple endocrine neoplasiaBA03829
NOTCH3 CADASILBA03830
OTC Ornithine transcarbamylase deficiencyBA03831
PKD1 Polycystic kidney disease 1BA03832
PKD2 Polycystic kidney disease 2BA03833
PKHD1 Polycystic kidney disease ARBA03834
RET Multiple endocrine neoplasia type 2BA03835
RHO Retinitis pigmentosaBA03836
RYR1 Central core diseaseBA03837
ATL1 Spastic paraplegia type 3ABA03838
TBX5 Holt-Oram syndromeBA03839
TCOF1 Treacher-Collins syndromeBA03840
TSC1 Tuberous sclerosisBA03841
TWIST1 Saethre-Chotzen syndromeBA03842
UNC13D Hemophagocytic lymphohistiocytosis 3BA03843
HBA1, HBA2 Alpha thalassemiaBA03864
Custom panelBA04160
ANTXR2 Hereditary systemic hyalinosisBA04277
ABCB11 Progressive familial intrahepatic cholestasisBA04362
L1CAM HydrocephalusBA04382
ALS2 Amyotrophic lateral sclerosis (ALS)BA04383
BBS4 Bardet-Biedl syndrome 4BA04384
ATXN2 Spinocerebellar ataxia type 2BA04385
CENPJ MicrocephalyBA04386
PMM2 Congenital disorder of glycosylationBA04387
CHM ChoroideremiaBA04388
CSF1R Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP )BA04389
EDA Hypohidrotic ectodermal dysplasiaBA04390
FGFR3 AchondroplasiaBA04391
HNF1B Renal cysts and diabetes syndromeBA04392
MYBPC3 Hypertrophic cardiomyopathyBA04393
MYH7 MiopathyBA04394
PAX6 AniridiaBA04395
PMP22 (CMT1A) Charcot-Marie-Tooth type 1A and 1EBA04396
SPAST Spastic paraplegia type 4BA04397
TGFBR1 Loeys-Dietz syndrome BA04398
TP53 Li-Fraumeni syndromeBA04399
VHL Von Hippel-Lindau syndromeBA04400
VPS13B Cohen syndromeBA04401
ATXN1 Spinocerebellar ataxia type 1BA04402
MKS1 Meckel Gruber syndromeBA04403
PLP1 Pelizaeus-Merzbacher diseaseBA04404
TNXB Ehlers-Danlos syndrome, classical-likeBA04405
AIMP2 Progressive neurodevelopmental disorderBA04406
GALC Krabbe diseaseBA04549
CLCN1 Myotonia congenitaBA04569
TNNT2 Dilated cardiomyopathyBA04570
PHEX Hypophosphatemic ricketsBA04571
ACADVL Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiencyBA04572
AR Kennedy diseaseBA04573
GALT GalactosemiaBA04574
BSCL2 Spastic paraplegiaBA04575
BRCA1 Breast-ovarian cancer syndromeBA04576
NF1 Neurofibromatosis type 1BA04577
CEP290 Meckel-Gruber syndromeBA04578
PEX16 Zellweger syndromeBA04579
AGL Glycogen storage disease type IIIBA04582
LAMA3 Epidermolysis bullosaBA04584
RB1 RetinoblastomaBA04586
SCN4A ParamyotoniaBA04587
LAMA2 LAMA2-related muscular dystrophyBA04588
BRCA2 Breast-ovarian cancer syndrome 2 BA04603
COL7A1 Dystrophic epidermolysis bullosaBA04604
ECHS1 Mitochondrial syndrome BA04605
FH Hereditary leiomyomatosis and renal cell cancer (HLRCC)BA04606
PRPH2 Stargardt diseaseBA04607
COQ4 Primary coenzyme Q10 deficiencyBA04622
TGM1 Hereditary ichthyosis (9/18/2020 Luis A approved the change to Lamellar ichthyosis)BA04631
CPLANE1 (C5orf42) Joubert syndromeBA04632
ADAT3 Mental retardationBA04633
ITGA2B Glanzmann thrombastheniaBA04634
TRIP11 Achondrogenesis type 1ABA04652
GRIA3 Mental retardationBA04653
GLB1 GM1 gangliosideBA04654
C12orf57 Temtamy syndromeBA04655
POMGNT2 Walker-Warburg syndromeBA04656
GLDC Glycine encephalopathyBA04657
COL6A1 Ullrich myopathyBA04658
ELAC2 Hypertrophic cardiomyopathyBA04659
SMPD1 Niemann-Pick disease (SMPD1)BA04660
IDS Mucopolysaccharidosis type II (MPS II - Hunter syndrome)BA04681
HMGCL HMGCL deficiencyBA04725
LIPH Autosomal recessive hypotrichosisBA04726
PHKB Glycogen storage disease type IXBA04727
RAB3GAP1  RAB18 deficiencyBA04728
OSTM1 Osteopetrosis, AR 5BA04730
SLC5A7 Myasthenic syndrome, congenital, 20, presynapticBA04731
ECM1 Lipoid proteinosisBA04732
TUSC3 Mental retardation, autosomal recessive 7BA04733
RPGRIP1  Leber congenital amaurosisBA04734
PDE6C Achromatopsia / Cone-rod dystrophyBA04735
DNAH5 Primary ciliary dyskinesia/HeterotaxyBA04736
WDR62 Autosomal recessive primary microcephaly (WDR62)BA04762
SLC26A3 Congenital secretory diarrhea, chloride typeBA04763
ABCB4 Intrahepatic cholestasis type 3BA04764
ALPL HypophosphatasiaBA04804
HBB, HLA Beta-thalassemia & HistocompatibilityBA04819
APC Familial adenomatous polyposis (FAP)BA04820
CCM2 Cerebral cavernous malformationsBA04821
OTOF DFNB9 Nonsyndromic Hearing LossBA04822
WAS Wiskott-Aldrich syndromeBA04823
COL4A5 Alport syndromeBA04824
KCNH2 Short QT syndromeBA04825
TCTN2 Joubert syndromeBA04826
ABCA3 Pulmonary surfactant dysfunction due to ABCA3 deficiencyBA04838
TSEN54 Pontocerebellar HypoplasiaBA04845
ECEL1 Distal arthrogryposis type 5DBA04898
MMAB Methylmalonic AcidemiaBA04899
STXBP2 Familial hemophagocytic lymphohistiocytosisBA04900
ASL Argininosuccinic AciduriaBA04901
SLC13A5 Epileptic encephalopathy, early infantile, 25BA04902
TBC1D7 Macrocephaly/megalencephaly syndrome, ARBA04903
DCAF17 (C2orf37) Woodhouse-Sakati syndromeBA04904
NSD1 Sotos syndromeBA04905
ABCG5 SitosterolemiaBA04913
CLN3 CLN3 diseaseBA04914
SLC2A2 Fanconi-Bickel syndromeBA04915
ARSB Mucopolysaccharidosis type VIBA04916
WWOX Spinocerebellar ataxia, AR 12BA04917
ACADS Short-chain acyl-CoA dehydrogenase (SCAD) deficiencyBA04918
TBCE Kenny-Caffey syndrome type 1BA04919
SLC45A2 Oculocutaneous albinismBA04920
CYP1B1 Early-onset glaucomaBA04921
PTF1A Pancreatic agenesis 2BA04922
BTK X-linked agammaglobulinemia (XLA)BA04964
ADA Adenosine deaminase deficiencyBA04965
DNAI2 Ciliary dyskinesia, primary, 9BA04966
FGA Hereditary renal amyloidosisBA04967
BRIP1 Fanconi AnemiaBA05131
ASPM Autosomal Recessive Primary Microcephaly (ASPM)BA05133
KDM6A Kabuki syndromeBA05135
ERF CraniosynostosisBA05137
KCNT1 KCNT1-Related EpilepsyBA05139
TREX1 Aicardi-Gouti√®res syndromeBA05141
COL1A2 Osteogenesis Imperfecta (COL1A2)BA05143
ALOX12B Self-healing collodion babyBA05145
RAG1 Combined immunodeficiency due to RAG1 deficiencyBA05147
FKRP FKRP-related muscular dystrophyBA05154
IDUA Mucopolysaccharidosis type I (MPS I)BA05168
POLG Alpers-Huttenlocher syndromeBA05170
Deletion 5p Cri-du-chat syndromeBA05200
ETFDH Glutaric acidemia type IIBA05205
GBA Gaucher diseaseBA05206
GJB2 Nonsyndromic Hearing Loss, DFNB1/DFNA3BA05207
KMT2D Kabuki Syndrome (KMT2D)BA05208
NPHS2 Nephrotic syndrome, type 2BA05209
RAG2 Omenn syndromeBA05210
Deletion 15q11.2 Deletion 15q11.2 (PWS/AS region)BA05211
ABCC8, KCNJ11 Neonatal diabetes mellitusBA05212
TTR Transthyretin AmyloidosisBA05215
GCDH Glutaric acidemia type IBA05220
SERPINA1 Alpha-1 antitrypsin deficiencyBA05233
NPC1 Niemann-Pick disease (NPC1)BA05242
BEST1 Vitelliform macular dystrophyBA05246
HADHA Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyBA05288
UPB1 Beta-ureidopropionase deficiencyBA05328
FLG Ichthyosis vulgarisBA05333
CHRNG Multiple pterygium syndromeBA05363
GJA8 CataractBA05364
KRT5 Epidermolysis bullosa simplex (KRT5)BA05365
KRT14 Epidermolysis bullosa simplex (KRT14)BA05366
MPDZ Hydrocephalus, congenital, 2BA05367
NPPA Atrial fibrillation, familialBA05368
PEX2 Zellweger syndrome (PEX2)BA05369
PRKG1 Aortic aneurysm, familial thoracicBA05370
SLC12A1 Bartter syndrome type IBA05371
IKBKG Incontinentia PigmentiBA05536
G6PD Glucose-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 PGD-Seq 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
PGD-SEQ BTD Biotinidase deficiency  BA06508
PGD-SEQ SERPING1 Angioedema, hereditary, 1 and 2  BA06509
PGD-SEQ PCNT Microcephalic osteodysplastic primordial dwarfism, type II  BA06510
PPGD-SEQ WNT2B Diarrhea 9  BA06511
PGD-SEQ ATAD3A Harel-Yoon syndrome  BA06512

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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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For Research Use Only. Not for use in diagnostic procedures.
* PGD-SEQ is a trademark of Bioarray, S.L.

For Research Use Only. Not for use in diagnostic procedures.