Targeted NGS Solutions for Preimplantation Genetic Testing of Monogenic/Single-gene Disorders (PGT-M)

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

Complete PGD-SEQ panel menu

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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
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-Gouti√®res 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

Custom designs available upon request.

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Learn about PGT from key opinion leaders in the field

Recent Advances for Simultaneous Analysis, to Determine Embryo PGT-A and PGT-M Status with NGS

Cengiz Cinnioglu, PhD
Founder & CEO, NextGen Genetics

Simplified preimplantation genetic testing workflow on a single embryo biopsy

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

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.
Learn more ›

Flyer: Obtain PGT-A and PGT-M results with a single NGS workflow

PGT-M Ordering Information

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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.