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

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.

View PGD-SEQ kit list

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

No records were found matching your criteria

Gene	Disease research area	PGD-SEQ Panel Cat. No.
10q26	Chromosomic region	BA06839
12q15	12q15 deletion syndrome	BA07009
12q24.33	12q24.33 duplication syndrome	BA06787
15q11	Duplication of 15q 11 region	BA06171
15q11.2	Deletion 15q11.2 (PWS/AS region)	BA05211
15q13.3	Chromosome 15q13.3 microdeletion syndrome	BA06830
15q26.3	15q26.3 deletion syndrome	BA06997
16p11.2	16p11.2 microduplication	BA06349
16p13.11	Chromosome 16p13.11 duplication syndrome	BA06646
17q12	17q12 deletion syndrome	BA07000
1p36	Chromosomic region	BA06838
1q21.1	1q21.1 microdeletion	BA06166
22q11.1	Chromosome 22q11.1q11.21 duplication	BA07030
22q11.2	22q11.2 deletion syndrome	BA06996
2p25.3	2p25.3 duplication syndrome	BA06909
5p	Cri-du-chat syndrome	BA05200
ABCA12	Ichthyosis, congenital	BA06672
ABCA3	Pulmonary surfactant dysfunction due to ABCA3 deficiency	BA04838
ABCA4	Stargardt disease 1	BA06784
ABCB11	Progressive familial intrahepatic cholestasis	BA04362
ABCB4	Intrahepatic cholestasis type 3	BA04764
ABCC6	Pseudoxanthoma elasticum	BA06189
ABCC8, KCNJ11	Neonatal diabetes mellitus	BA05212
ABCD1	Adrenoleukodystrophy X-Linked	BA03825
ABCD1+HLA	Adrenoleukodystrophy+ HLA histocompatibility	BA06985
ABCG5	Sitosterolemia	BA04913
ABCG8	Sitosterolemia 1	BA06185
ACADM	Medium-chain acyl-CoA dehydrogenase deficiency	BA03798
ACADS	Short-chain acyl-CoA dehydrogenase (SCAD) deficiency	BA04918
ACADVL	Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency	BA04572
ACE	Renal tubular dysgenesis	BA06998
ACSF3	Combined malonic and methylmalonic aciduria	BA06642
ACTA2	Aortic aneurysm, familial thoracic 6	BA06160
ACTG2	Visceral myopathy 1	BA06866
ACVRL1	Telangiectasia, hereditary hemorrhagic, type 2	BA06174
ADA	Adenosine deaminase deficiency	BA04965
ADAR	Aicardi-Goutières syndrome 6	BA06637
ADAT3	Mental retardation	BA04633
ADGRG1	Polymicrogyria, bilateral frontoparietal	BA06030
ADGRV1	Usher syndrome, type 2C	BA06680
AFG3L2	Spinocerebellar ataxia 28	BA06796
AGL	Glycogen storage disease type III	BA04582
AGXT	Hyperoxaluria, primary, type 1	BA06927
AHI1	Joubert syndrome 3	BA06167
AIMP2	Progressive neurodevelopmental disorder	BA04406
ALDOB	Fructose intolerance	BA07006
ALMS1	Alstrom syndrome	BA06883
ALOX12B	Self-healing collodion baby	BA05145
ALPL	Hypophosphatasia	BA04804
ALS2	Amyotrophic lateral sclerosis (ALS)	BA04383
AMER1	Osteopathia striata with cranial sclerosis	BA06915
AMT	Glycine encephalopathy 2	BA06984
ANOS1	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	BA07020
ANTXR2	Hereditary systemic hyalinosis	BA04277
ANXA5	Susceptibility to/recurrent pregnancy loss	BA06923
AP4M1	Spastic paraplegia	BA05918
APC	Familial adenomatous polyposis (FAP)	BA04820
APOB	Hypercholesterolemia, familial, 2	BA06921
APRT	Adenine phosphoribosyltransferase deficiency	BA06044
AR	Kennedy disease	BA04573
ARHGEF9	Developmental and epileptic encephalopathy 8	BA06833
ARSA	Metachromatic leukodystrophy	BA06858
ARSB	Mucopolysaccharidosis type VI	BA04916
ARSE	Chondrodysplasia punctata, X-linked recessive	BA06920
ASL	Argininosuccinic Aciduria	BA04901
ASPM	Autosomal recessive primary microcephaly (ASPM)	BA05133
ATAD3A	Harel-Yoon syndrome	BA06512
ATL1	Spastic paraplegia type 3A	BA03838
ATM	Ataxia-telangiectasia	BA05916
ATN1	Dentatorubral-pallidoluysian atrophy	BA07019
ATP2A2	Darier disease	BA06187
ATP7B	Wilson disease	BA06350
ATRX	Mental retardation-hypotonic facies syndrome, X-linked	BA06162
ATXN1	Spinocerebellar ataxia type 1	BA04402
ATXN2	Spinocerebellar ataxia type 2	BA04385
ATXN3	Spinocerebellar ataxia 3	BA05919
ATXN-7	Spinocerebellar ataxia 7	BA06348
ATXN8OS	Spinocerebellar ataxia 8	BA06792
B3GALNT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11)	BA06444
BBS1	Bardet-Biedl syndrome 1	BA06505
BBS10	Bardet-Biedl syndrome 10	BA03799
BBS4	Bardet-Biedl syndrome 4	BA04384
BCHE	Butyrylcholinesterase deficiency	BA06840
BCKDHB	Maple syrup urine disease, type Ib	BA06048
BEST1	Vitelliform macular dystrophy	BA05246
BMPR1A	Polyposis, juvenile intestinal	BA06899
BRAT1	Neurodevelopmental disorder with cerebellar atrophy	BA06864
BRCA1	Breast-ovarian cancer syndrome	BA04576
BRCA2	Breast-ovarian cancer syndrome 2	BA04603
BRIP1	Fanconi anemia	BA05131
BSCL2	Spastic paraplegia	BA04575
BTD	Biotinidase deficiency	BA06508
BTK	X-linked agammaglobulinemia (XLA)	BA04964
C12orf57	Temtamy syndrome	BA04655
C9orf72	Frontotemporal dementia and/or ALS 1	BA06172
CACAN1A	Developmental and epileptic encephalopathy 42	BA06836
CACNA1A	Spinocerebellar ataxia 6 (SCA6)	BA06170
CACNA1S	Hypokalemic periodic paralysis, type 1	BA06169
CAPN3	Muscular dystrophy, limb-girdle	BA06645
CBS	Homocystinuria	BA06639
CC2D2A	COACH syndrome 2	BA06919
CCM2	Cerebral cavernous malformations	BA04821
CDH1	Diffuse gastric and lobular breast cancer	BA06671
CENPJ	Microcephaly	BA04386
CEP290	Meckel-Gruber syndrome	BA04578
CFTR	Cystic fibrosis	BA03800
CHEK2	Susceptibility to breast cancer	BA05683
CHM	Choroideremia	BA04388
CHRNE	Myasthenic syndrome, congenital	BA06835
CHRNG	Multiple pterygium syndrome	BA05363
CLCN1	Myotonia congenita	BA04569
CLCN5	Dent disease 1	BA06182
CLDN19	Hypomagnesemia 5, renal, with ocular involvement	BA06506
CLN3	CLN3 disease	BA04914
CNBP	Myotonic dystrophy 2	BA06360
CNGA3	Achromatopsia 2	BA06841
COG5	COG5-congenital disorder of glycosylation	BA06829
COG6	Congenital disorder of glycosylation, type IIl	BA06424
COL11A1	Stickler syndrome	BA03802
COL12A1	COL12A1 disorder-related	BA06884
COL1A1	Osteogenesis imperfecta (COL1A1)	BA03803
COL1A1	Osteogenesis imperfecta	BA06168
COL1A2	Osteogenesis Imperfecta (COL1A2)	BA05143
COL2A1	Spondyloepiphyseal dysplasia	BA03804
COL3A1	Ehlers-Danlos syndrome, vascular type	BA06513
COL4A3	Alport syndrome 2	BA06656
COL4A4	Alport syndrome 2, autosomal recessive	BA06837
COL4A5	Alport syndrome	BA04824
COL6A1	Ullrich myopathy	BA04658
COL6A2	Ullrich congenital muscular dystrophy 1	BA06670
COL6A3	Ullrich congenital muscular dystrophy 1	BA06799
COL7A1	Dystrophic epidermolysis bullosa	BA04604
COMP	Carpal tunnel syndrome 2	BA06832
COQ4	Primary coenzyme Q10 deficiency	BA04622
CPABPN1	Oculopharyngeal muscular dystrophy	BA06507
CPLANE1 (C5orf42)	Joubert syndrome	BA04632
CPS1	Carbamoyl phosphate synthetase I deficiency	BA06791
CRB1	Retinitis pigmentosa	BA06653
CSF1R	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)	BA04389
CSTB	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	BA07005
CYP1B1	Early-onset glaucoma	BA04921
CYP21A2	Congenital adrenal hyperplasia	BA03805
D4Z4	Facioscapulohumeral muscular dystrophy (FSHD)	BA03806
DCAF17 (C2orf37)	Woodhouse-Sakati syndrome	BA04904
DEAF1	Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures	BA06458
DelXq24	Intellectual developmental disorder, X-linked syndromic, Cabezas type	BA07026
DEPDC5	Developmental and epileptic encephalopathy 111	BA07029
DES	Cardiomyopathy, dilated, 1I	BA06159
DHCR7	Smith-Lemli-Opitz syndrome	BA06356
DMD	Duchenne muscular dystrophy	BA03807
DMPK	Steinert disease (Myotonic dystrophy type 1)	BA03808
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus	BA06442
DNAH5	Primary ciliary dyskinesia/heterotaxy	BA04736
DNAI2	Ciliary dyskinesia, primary, 9	BA04966
DPYD	Dihydropyrimidine dehydrogenase deficiency	BA06674
DSP	Cardiomyopathy	BA06848
DSPP	Dentin dysplasia, type II	BA07010
DUOX2	Thyroid dyshormonogenesis 6	BA06650
DYNC2H1	Jeune syndrome	BA03809
DYSF	Muscular dystrophy, limb-girdle, autosomal recessive 2	BA06982
ECEL1	Distal arthrogryposis type 5D	BA04898
ECHS1	Mitochondrial syndrome	BA04605
ECM1	Lipoid proteinosis	BA04732
EDA	Hypohidrotic ectodermal dysplasia	BA04390
ELAC2	Hypertrophic cardiomyopathy	BA04659
ELANE	Neutropenia, severe congenital 1	BA06514
ELN	Supravalvular aortic stenosis and cutis laxa	BA06888
ELP1	Dysautonomia, familial	BA06658
ELP2	Intellectual developmental disorder, autosomal recessive 58	BA06925
EMD	Emery-Dreifuss muscular dystrophy 1, X-linked	BA06824
ENG	Telangiectasia, hereditary hemorrhagic, type 1	BA06173
EPCAM	Lynch syndrome 8	BA06895
ERCC8	Cockayne syndrome, type A	BA06358
ERF	Craniosynostosis	BA05137
ETFDH	Glutaric acidemia type II	BA05205
EVC, EVC2	Ellis-van Creveld syndrome	BA03811
EXT1	Exostoses type 1	BA03812
EXT2	Exostoses type 2	BA03813
EYA1	Branchiootic syndrome 1	BA06907
EYS	Retinitis pigmentosa 25	BA06931
F11	Factor XI deficiency, autosomal recessive	BA06904
F12	Hereditary angioedema type 3	BA06165
F2	Thrombophilia 1 due to thrombin defect	BA06789
F5	Factor V deficiency	BA06638
F8	Hemophilia A	BA03814
F9	Hemophilia B	BA06183
FAM161A	Retinitis pigmentosa 1	BA06865
FAM83H	Amelogenesis imperfecta, type IIIA	BA06790
FANCA	Fanconi anemia	BA05548
FARS2	Combined oxidative phosphorylation deficiency 14	BA06823
FBN1	Marfan syndrome	BA03815
FGA	Hereditary renal amyloidosis	BA04967
FGF10	Aplasia of lacrimal and salivary glands	BA06981
FGF8	Hypogonadotropic hypogonadism 6 with or without anosmia	BA06825
FGFR1	Hypogonadotropic hypogonadism 2 with or without anosmia	BA06786
FGFR2	Crouzon syndrome	BA05551
FGFR3	Achondroplasia	BA04391
FH	Hereditary leiomyomatosis and renal cell cancer (HLRCC)	BA04606
FKRP	FKRP-related muscular dystrophy	BA05154
FLCN	Birt-Hogg-Dube syndrome	BA06648
FLG	Ichthyosis vulgaris	BA05333
FLNC	Cardiomyopathy, familial hypertrophic, 26	BA06667
FMR1	Fragile X	BA03816
FTCD	Glutamate formiminotransferasa deficiency	BA06886
FUS	Amyotrophic lateral sclerosis (ALS)	BA03817
FY	Blood group, Duffy system	BA06994
G6PD	Glucose-6-phosphate dehydrogenase deficiency	BA05547
GAA	Glycogen storage disease II	BA06504
GABBR2	Developmental and epileptic encephalopathy 59	BA07024
GALC	Krabbe disease	BA04549
GALNS	Mucopolysaccharidosis IV	BA03818
GALT	Galactosemia	BA04574
GBA	Gaucher disease	BA05206
GBE1	Glycogen storage disease IV	BA06438
GCDH	Glutaric acidemia type I	BA05220
GCH1	Dystonia, DOPA-responsive	BA06161
GHR	Growth hormone insensitivity	BA06804
GIPC3	Oculopharyngodistal myopathy 2	BA07033
GJA1	Oculodentodigital dysplasia	BA03819
GJA8	Cataract	BA05364
GJB1	Charcot-Marie-Tooth neuropathy 1	BA06654
GJB2	Nonsyndromic hearing Loss, DFNB1/DFNA3	BA05207
GJB6	Deafness	BA06822
GLA	Fabry disease	BA06679
GLB1	GM1 ganglioside	BA04654
GLDC	Glycine encephalopathy	BA04657
GNAS	Pseudohypoparathyroidism 1A	BA06666
GNE	Nonaka myopathy	BA06657
GNPAT	Rhizomelic chondrodysplasia punctata, type 2	BA06353
GNRHR	Hypogonadotropic hypogonadism 7 without anosmia	BA06844
GORAB	Geroderma osteodysplasticum	BA06050
GPC3	Simpson-Golabi-Behmel syndrome, type 1	BA06928
GRIA3	Intellectual developmental disorder	BA04653
GRN	Frontotemporal lobar degeneration with ubiquitin-positive inclusions	BA06186
HADHA	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	BA05288
HBA1, HBA2	Alpha thalassemia	BA03864
HBB	Beta thalassemia	BA03820
HBB, HLA	Beta thalassemia and histocompatibility	BA04819
HBB+ HBA 1-2	Beta thalassemia and alpha thalassemia	BA05549
HEXA	Tay-Sachs disease	BA03822
HEXB	Sandhoff disease, infantile, juvenile, and adult forms	BA06184
HFE	Hereditary hemochromatosis type 1	BA05684
HLA	Histocompatibility	BA03823
HMGCL	HMGCL deficiency	BA04725
HNF1A	Diabetes mellitus insulin-dependent	BA06788
HNF1B	Renal cysts and diabetes syndrome	BA04392
HPA 1, 5 and 15	Human platelet antigen system 1, 5 and 15	BA06891
HPRT1	Lesch-Nyhan syndrome	BA05685
HTT	Huntington	BA03821
HUWE1	Intellectual developmental disorder, X-linked syndromic, Turner type	BA07007
IDS	Mucopolysaccharidosis type II (MPS II–Hunter syndrome)	BA04681
IDUA	Mucopolysaccharidosis type I (MPS I)	BA05168
IFITM5	Osteogenesis imperfecta, type V	BA06685
IGFALS	Deficiency of acid-labile subunit	BA06802
IKBKG	Incontinentia pigmenti	BA05536
IL2RG	X-linked combined immunodeficiency	BA03824
IL7R	Immunodeficiency 104, severe combined	BA06916
IRF6	Popliteal pterygium syndrome 1	BA06669
ITGA2B	Glanzmann thrombasthenia	BA04634
IVD	Isovaleric acidemia	BA06798
JAK3	SCID, T-negative/B-positive type	BA07028
KCNA1	Episodic ataxia/myokymia syndrome	BA06889
KCNA2	Developmental and epileptic encephalopathy 32	BA06898
KCNH2	Short QT syndrome	BA04825
KCNQ1	Long QT syndrome 1	BA06664
KCNT1	KCNT1-Related epilepsy	BA05139
KDM6A	Kabuki syndrome	BA05135
KEL	Kell Blood group	BA06855
KIF1C	Spastic ataxia 2, autosomal recessive	BA06440
KIF21A	Fibrosis of extraocular muscles	BA06682
KMT2B	Dystonia 28, childhood-onset	BA05921
KMT2D	Kabuki syndrome (KMT2D)	BA05208
KRT14	Epidermolysis bullosa simplex (KRT14)	BA05366
KRT5	Epidermolysis bullosa simplex (KRT5)	BA05365
KRT9	Palmoplantar keratoderma, epidermolytic	BA06665
L1CAM	Hydrocephalus	BA04382
LAMA2	LAMA2-related muscular dystrophy	BA04588
LAMA3	Epidermolysis bullosa	BA04584
LAMB3	Junctional epidermolysis bullosa	BA03826
LARP7	Alazami syndrome	BA06991
LCA5	Leber congenital amaurosis 5	BA06803
LDB3	Cardiomyopathy, hypertrophic, 24	BA06926
LDLR	Hypercholesterolemia familial 1	BA05687
LEPR	Obesity, morbid, due to leptin receptor deficiency	BA06662
LIPH	Autosomal recessive hypotrichosis	BA04726
LMNA	Dilated cardiomyopathy	BA03827
LNPK	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	BA06924
LRP4	Cenani-Lenz syndactyly syndrome	BA06849
LZTR1	Noonan syndrome 10	BA07031
MATN3	Epiphyseal dysplasia, multiple, 5	BA06180
MCCC2	3-methylcrotonyl-CoA carboxylase 2 deficiency	BA05552
MEFV	Familial Mediterranean fever	BA06641
MEN1	Multiple endocrine neoplasia	BA03829
MFN2	Charcot-Marie-Tooth disease type 2A2	BA06785
MKS1	Meckel Gruber syndrome	BA04403
MLH1	Mismatch repair cancer syndrome	BA06139
MLH1	Mismatch repair cancer syndrome	BA06139
MMAB	Methylmalonic Acidemia	BA04899
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type	BA06678
MMP21	Heterotaxy, visceral, 7, autosomal	BA06821
MPDZ	Hydrocephalus, congenital, 2	BA05367
MPZ (CMT1B)	Charcot-Marie-Tooth type 1B	BA03801
MSH2	Lynch syndrome	BA03828
MSH6	Hereditary colorectal cancer	BA06352
MSH6	Hereditary colorectal cancer	BA06352
MTHFR	Homocystinuria	BA06188
MTM1	Centronuclear myopathy	BA06860
MTOR	Smith-Kingsmore syndrome	BA06910
MTR	Homocystinuria-megaloblastic anemia	BA06862
MTTL1	MELAS syndrome	BA06362
MUTYH	Adenomas, multiple colorectal	BA06854
MYBPC3	Hypertrophic cardiomyopathy	BA04393
MYH7	Miopathy	BA04394
MYL2	Hypertrophic cardiomyopathy 10	BA06503
MYO7A	Deafness, autosomal dominant 11	BA06027
NAGA	Kanzaki disease	BA06988
NBAS	Infantile liver failure syndrome 2	BA06903
NDUFS8	Mitochondrial complex I deficiency, nuclear type 2	BA06054
NEB	Arthrogryposis multiplex congenita 6	BA06831
NEXN	Cardiomyopathy, dilated, 1CC	BA06986
NF1	Neurofibromatosis type 1	BA04577
NFKB1	Immunodeficiency, common variable, 12	BA07016
NFU1	Multiple mitochondrial dysfunctions syndrome 1	BA07003
NOG	Multiple synostoses syndrome 1	BA06058
NOTCH1	Adams-Oliver syndrome 5	BA07004
NOTCH3	CADASIL	BA03830
NPC1	Niemann-Pick disease (NPC1)	BA05242
NPHP1	Joubert syndrome 4	BA06834
NPHS2	Nephrotic syndrome, type 2	BA05209
NPPA	Atrial fibrillation, familial	BA05368
NR2E3	Enhanced S-cone syndrome	BA06827
NSD1	Sotos syndrome	BA04905
NUBPL	Mitochondrial complex I deficiency, nuclear type 21	BA06039
OCA2	Albinism	BA06843
OPN1MW	Blue cone monochromacy	BA07027
OSTM1	Osteopetrosis, AR 5	BA04730
OTC	Ornithine transcarbamylase deficiency	BA03831
OTOA	Deafness, autosomal recessive 22	BA07001
OTOF	DFNB9 nonsyndromic hearing loss	BA04822
OTX2	Microphthalmia, syndromic 5	BA06828
P3H1	Osteogenesis imperfecta, type VIII	BA06826
PAH	Pulmonary arterial hypertension	BA05550
PALB2	Susceptibility to breast and pancreatic cancer	BA06683
PAX6	Aniridia	BA04395
PAX9	Tooth agenesis, selective, 3	BA06651
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II	BA06510
PDCD10	Cerebral cavernous malformation	BA06999
PDE6C	Achromatopsia/cone-rod dystrophy	BA04735
PEPD	Prolinasa deficiency	BA06782
PEX1	Peroxisome biogenesis disorder 1A (Zellweger)	BA06500
PEX16	Zellweger syndrome	BA04579
PEX2	Zellweger syndrome (PEX2)	BA05369
PHEX	Hypophosphatemic rickets	BA04571
PHKA2	Glycogen storage disease, type IXa2	BA07008
PHKB	Glycogen storage disease type IX	BA04727
PIGT	Multiple congenital anomalies-hypotonia-seizures syndrome 3	BA06644
PKD1	Polycystic kidney disease 1	BA03832
PKD2	Polycystic kidney disease 2	BA03833
PKHD1	Polycystic kidney disease AR	BA03834
PKLR	Pyruvate kinase deficiency	BA06781
PKP2	Arrhythmogenic right ventricular dysplasia 9	BA05920
PLA2G6	Neurodegeneration with brain iron accumulation 2B	BA06652
PLP1	Pelizaeus-Merzbacher disease	BA04404
PMM2	Congenital disorder of glycosylation	BA04387
PMP22 (CMT1A)	Charcot-Marie-Tooth type 1A and 1E	BA04396
PMS2	Lynch syndrome 4	BA06675
PNKP	Charcot-Marie-Tooth disease, type 2B2	BA06163
POC1A	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	BA06433
POLD1	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	BA06453
POLG	Alpers-Huttenlocher syndrome	BA05170
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	BA06427
POMGNT2	Walker-Warburg syndrome	BA04656
POMK	Muscular dystrophy-dystroglycanopathy	BA03785
POMT1	Muscular dystrophy-dystroglycanopathy	BA06851
PPP1R21	Decreased viability	BA06034
PPP2R2B	Spinocerebellar ataxia 12	BA06359
PRF1	Lymphoma, non-Hodgkin	BA06668
PRKG1	Aortic aneurysm, familial thoracic	BA05370
PRODH	Hyperprolinemia, type I	BA07021
PRPH2	Stargardt disease	BA04607
PRRT2	Convulsions, familial infantile, with paroxysmal choreoathetosis	BA06686
PTEN	Cowden syndrome 1	BA06911
PTF1A	Pancreatic agenesis 2	BA04922
PTPN11	Metachondromatosis	BA06929
RAB3GAP1	RAB18 deficiency	BA04728
RAD21	Cornelia de Lange syndrome 4	BA06901
RAD51C	Susceptibility to breast-ovarian cancer, familial	BA06673
RAD51C	Susceptibility to breast-ovarian cancer	BA06863
RAG1	Combined immunodeficiency due to RAG1 deficiency	BA05147
RAG2	Omenn syndrome	BA05210
RAPSN	Fetal akinesia deformation sequence 2	BA06661
RARS2	Pontocerebellar hypoplasia, type 6	BA06913
RASPN	Fetal akinesia deformation sequence 2	BA06181
RB1	Retinoblastoma	BA04586
RBM8A	Thrombocytopenia-absent radius syndrome	BA06793
RERE	Neurodevelopmental syndrome	BA05917
RET	Multiple endocrine neoplasia type 2	BA03835
RFX6	Mitchell-Riley syndrome	BA06859
RH	Blood group, RH system	BA06355
RHO	Retinitis pigmentosa	BA03836
RMRP	Cartilage-hair hypoplasia	BA06817
RP1	Retinitis pigmentosa 1	BA06820
RPE65	Leber congenital amaurosis 2	BA06918
RPGR	Retinitis pigmentosa 33	BA06357
RPGRIP1	Leber congenital amaurosis	BA04734
RS1	Retinoschisis	BA06681
RTTN	Microcephaly, short stature, and polymicrogyria with seizures	BA06885
RUNX1	Leukemia, acute myeloid	BA06818
RUNX2	Cleidocranial dysplasia	BA06842
RYR1	Central core disease	BA03837
RYR1	Congenital myopathy 1B, autosomal recessive	BA06794
RYR2	Ventricular tachycardia	BA06857
SACS	Spastic paraplegia	BA06819
SALL4	Duane-radial ray syndrome	BA06902
SATB2	Glass syndrome	BA06354
SBDS	Shwachman-Diamond syndrome 1	BA06912
SCN10A	Episodic pain syndrome, familial, 2	BA06429
SCN1B	Developmental and epileptic encephalopathy 52, atrial fibrillation, familial, 13	BA06906
SCN4A	Paramyotonia	BA04587
SCN5A	Long QT syndrome 3	BA05686
SCN5A	Dilated cardiomyopathy 1E	BA06795
SCN8A	Developmental and epileptic encephalopathy 13	BA06893
SCO2	Mitochondrial complex IV deficiency, nuclear type 2	BA06896
SDHB	Paragangliomas	BA06853
SDHC	Paraganglioma and gastric stromal sarcoma	BA06861
SDHD	Paraganglioma and gastric stromal sarcoma	BA07002
SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia	BA06917
SERPINA1	Alpha-1 antitrypsin deficiency	BA05233
SERPING1	Angioedema, hereditary, 1 and 2	BA06509
SETD5	Mental retardation, autosomal dominant 23	BA06041
SGCA	Muscular dystrophy, limb-girdle, autosomal recessive 3	BA06420
SGSH	Mucopolysaccharidosis type IIIA	BA06800
SH3TC2	Charcot-Marie-Tooth disease, type 4C	BA06435
SHH	Holoprosencephaly 3	BA06992
SIX5	Branchio-oto-renal syndrome 2	BA06908
SLC12A1	Bartter syndrome type I	BA05371
SLC12A3	Gitelman syndrome	BA06455
SLC12A6	Charcot-Marie-Tooth disease, axonal, type 2II	BA06882
SLC13A5	Epileptic encephalopathy, early infantile, 25	BA04902
SLC16A2	Allan-Herndon-Dudley syndrome	BA06846
SLC1A3	Episodic ataxia, type 6	BA06890
SLC22A5	Carnitine deficiency	BA06797
SLC26A2	Diastrophic dysplasia	BA06649
SLC26A3	Congenital secretory diarrhea, chloride type	BA04763
SLC26A4	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	BA06449
SLC2A2	Fanconi-Bickel syndrome	BA04915
SLC37A4	Glycogen storage disease I	BA06647
SLC3A1	Cystinuria	BA06856
SLC45A2	Oculocutaneous albinism	BA04920
SLC52A2	Brown-Vialetto-Van Laere syndrome 2	BA06663
SLC5A7	Myasthenic syndrome, congenital, 20, presynaptic	BA04731
SLC6A8	Cerebral creatine deficiency syndrome 1	BA06347
SLC6A8	Cerebral creatine deficiency syndrome 1	BA06347
SLC6A8	Cerebral creatine deficiency syndrome 1	BA07018
SMARCAL1	Schimke immuno-osseous dysplasia	BA06847
SMCHD1	Bosma arhinia microphthalmia syndrome	BA07023
SMN1	Spinal muscular atrophy	BA03784
SMPD1	Niemann-Pick disease (SMPD1)	BA04660
SNRNP200	Retinitis pigmentosa 33	BA06351
SNRNP200	Retinitis pigmentosa 33	BA06351
SOX6	Tolchin-Le Caignec syndrome	BA06046
SPAST	Spastic paraplegia type 4	BA04397
SPATA5	Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities	BA06677
STAT3	Autoimmune disease, multisystem, infantile-onset, 1	BA07032
STK11	Melanoma, malignant, somatic	BA06905
STS	Recessive X-linked ichthyosis	BA06783
STXBP2	Familial hemophagocytic lymphohistiocytosis	BA04900
SYNGAP1	Intellectual developmental disorder	BA06852
SZT2	Developmental and epileptic encephalopathy 18	BA06894
TAZ	Barth syndrome	BA06801
TBC1D7	Macrocephaly/megalencephaly syndrome, AR	BA04903
TBCE	Kenny-Caffey syndrome type 1	BA04919
TBCK	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	BA06052
TBX5	Holt-Oram syndrome	BA03839
TCOF1	Treacher-Collins syndrome	BA03840
TCTN2	Joubert syndrome	BA04826
TDRD7	Cataract 36	BA07015
TFAP2A	Branchio-oculofacial syndrome	BA06930
TGFB2	Loeys-Dietz syndrome 4	BA06887
TGFBR1	Loeys-Dietz syndrome	BA04398
TGM1	Lamellar ichthyosis	BA04631
THOC2	Intellectual disability	BA06845
TMEM216	Joubert syndrome 2 / Meckel syndrome 2	BA06501
TMEM67	Joubert syndrome 6	BA06643
TMIE	Deafness, autosomal recessive 6	BA06993
TNFSF11	Osteopetrosis, autosomal recessive 2	BA06032
TNNC1	Cardiomyopathy, dilated, 1Z	BA07022
TNNI3K	Cardiac conduction disease with or without dilated cardiomyopathy	BA06995
TNNT2	Dilated cardiomyopathy	BA04570
TNXB	Ehlers-Danlos syndrome, classical-like	BA04405
TP53	Li-Fraumeni syndrome	BA04399
TRAPPC2	Spondyloepiphyseal dysplasia tarda	BA06989
TREX1	Aicardi-Goutières syndrome	BA05141
TRIP11	Achondrogenesis type 1A	BA04652
TRPV4	Scapuloperoneal spinal muscular atrophy	BA06892
TSC1	Tuberous sclerosis	BA03841
TSC2	Lymphangioleiomyomatosis, somatic	BA06922
TSEN54	Pontocerebellar hypoplasia	BA04845
TTN	Dilated cardiomyopathy 1G	BA06502
TTR	Transthyretin amyloidosis	BA05215
TULP1	Leber congenital amaurosis 15	BA06990
TUSC3	Mental retardation, autosomal recessive 7	BA04733
TWIST1	Saethre-Chotzen syndrome	BA03842
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	BA06987
TYR	Oculocutaneous albinism	BA06881
UBA5	Developmental and epileptic encephalopathy 44	BA06037
UBE3A	Angelman syndrome	BA06676
UFM1	Leukodystrophy, hypomyelinating, 14	BA06655
UMOD	Tubulointerstitial kidney disease, autosomal dominant, 1	BA06850
UNC13D	Hemophagocytic lymphohistiocytosis 3	BA03843
UPB1	Beta-ureidopropionase deficiency	BA05328
USH1C	Usher syndrome, type 1C	BA06659
USH2A	Usher syndrome, type 2A	BA06361
VHL	Von Hippel-Lindau syndrome	BA04400
VPS13A	Choreoacanthocytosis	BA06684
VPS13B	Cohen syndrome	BA04401
WAS	Wiskott-Aldrich syndrome	BA04823
WDR11	Hypogonadotropic hypogonadism 14 with or without anosmia	BA06897
WDR45	Neurodegeneration with brain iron accumulation 5	BA07025
WDR62	Autosomal recessive primary microcephaly (WDR62)	BA04762
WNT10A	Odonto-onycho-dermal dysplasia	BA06164
WNT2B	Diarrhea 9	BA06511
WT1	Wilms tumor, type 1	BA06660
WWOX	Spinocerebellar ataxia, AR 12	BA04917
Xp21.1	Xp21.1 deletion syndrome	BA06900
Xp22.2	Xp22.2 duplication syndrome	BA06914
Xp22.3	Xp22.3 duplication syndrome	BA06983
Xq21.1	Chromosome Xq21.1 duplication syndrome	BA06640
ZFYVE26	Spastic paraplegia 15, autosomal recessive	BA06447

Custom designs available upon request.

Featured PGD-SEQ solutions:

SMN1 Panel and Reagent Kit for spinal muscular atrophy (SMA)
CFTR Panel and Reagent Kit for cystic fibrosis
COL1A1 Panel and Reagent Kit for osteogenesis imperfecta
FMR1 Panel and Reagent Kit for fragile X
HBA1/HBA2 Panel and Reagent Kit for alpha thalassemia
HBB Panel and Reagent Kit for beta thalassemia

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: Ion Torrent PGD-SEQ kit menu for PGT-M

PGT-M Ordering Information

Consult an expert about how to bring simple, scalable and automated NGS to your lab, or inquire about the latest genes available for PGT-M.

Request to be contacted

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.