PGT-M + PGT-A

We enable researchers to test for both single-gene mutations and chromosomal abnormalities in embryos using a single biopsy.

Journey genomics

What it is

PGD-SEQ is a next-generation sequencing (NGS)-based genetic test that enables researchers to conduct preimplantation genetic testing (PGT) in embryos for both aneuploidies (PGT-A) and monogenic disorders (PGT-M).

PGT-M is designed to research monogenic disorders that are caused by variants within a single gene and are inheritable.

PGT-A is designed to study disorders due to chromosomal abnormalities such as aneuploidies and copy number variation. Chromosomal abnormalities occur spontaneously during mitosis and can be fatal, causing miscarriage.

Key benefits of the PGD-SEQ kit and software package:

In-house analysis of both PGT-M and PGT-A.

Obtain results within just 13 hours

Researching for more than 200 verified diseases.

Simplify your laboratory routine.

How it works

Next-generation sequencing (NGS) is currently the most effective technique available for the study of the genome. It has become an important tool for implementing PGT

NGS offers comprehensive information concerning aneuploidies, genetic mutations, and unbalanced translocations in the samples. 

With more comprehensive information, researchers can make more informed decisions for selection of healthy preimplantation embryos.

Workflow for PGT-M by NGS

Research Case Review

The research family report with monogenic disorder arrives at the laboratory.

Panel Design

The NGS panel is designed specifically for the disorder of interest.

Informative Study

Research blood samples from both parents and other family members are sent to the laboratory and DNA is extracted. An informational study is carried out to identify which allele is inherited from each parent.

Embryo Biopsy

The research embryos are biopsied on day 3 or 5 by an experienced embryologist.

First Amplification

When the embryo biopsy arrives at the laboratory, the first amplification begins. In this step, the whole genome is amplified.

Second Amplification

A second amplification is performed. This amplification is specifically on the region that includes the variants of interest.

Sequencing

The amplified library is sequenced. The results are analyzed with the PGD-SEQ software. The software integrates the data about the inherited alleles identified in the informational study with the sequencing data from the research embryo biopsy to determine which embryos are affected, carry the disorder-causing mutations, or are unaffected.

Workflow for PGT-M + PGT-A by NGS

With PGD-SEQ, both PGT-M and PGT-A can be combined to study both monogenic disorders and aneuploidy starting from a single biopsy. In addition, multiple samples can be processed together in such a way that the per‑sample sequencing time and cost are minimized.

Research Case Review

The research family report indicating the disorder to study arrives at the laboratory.

Panel Design

The NGS panel is designed specifically for the disorder of interest.

Informative Study

Research blood samples from both parents and other family members are sent to the laboratory and DNA is extracted. An informational study is carried out to identify which allele is inherited from each parent and whether they are also present in other family members.

Embryo Biopsy

The research embryos are biopsied on day 3 or 5 by an experienced embryologist.

First Amplification

When the biopsy arrives at the laboratory, the first amplification begins. In this step, the whole genome is amplified. Part of the first amplification is used for PGT-M.

Second Amplification

A second amplification is performed. This amplification is specifically on the region that includes the variants of interest, for PGT-M.

Sequencing

The PGT-M and PGT-A libraries are sequenced. The results are analyzed with the PGD-SEQ software. The software integrates the data from the informational study with the sequence data from the research embryo biopsy to determine which embryos are affected, carry the disorder-causing mutations, or are unaffected.

PGT-M + PGT-A analysis can be carried out in as little as 24 hours.

Our PGT-M by NGS panels

To create our sequencing panels, DNA samples from both parents as well as additional family members are requested for testing.

PGT-M allows simultaneous detection of different point mutations and surrounding SNPs, to identify potential allele drop-out phenomenon, accurately calling each research embryo as affected, carrier, or unaffected.

OUR PGT-M TESTS

Panels Available & Customization

We currently offer more than 200 verified panels. We can also customize panels for you to study different monogenic disorders according to your research needs.

A
BA04838 / ABCA3 Pulmonary surfactant dysfunction due to ABCA3 deficiency

BA04362 / ABCB11 Progressive familial intrahepatic cholestasis

BA04764 / ABCB4 Intrahepatic cholestasis type 3

BA05212 / ABCC8,KCNJ11 >
Neonatal diabetes mellitus 3

BA03825 / ABCD1 >
Adrenoleukodystrophy X-Linked

BA04913 / ABCG5 Sitosterolemia

BA03798 / ACADM Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

BA04918 / ACADS Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

BA04572 / ACADVL Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

BA04965 / ADA Adenosine deaminase deficiency

BA04633 / ADAT3 Mental retardation

BA04582 / AGL Glycogen storage disease type III

BA04406 / AIMP2 Progressive neurodevelopmental disorder

BA05145 / ALOX12B Self-healing collodion baby

BA04804 / ALPL Hypophosphatasia

BA04383 / ALS2 Amyotrophic lateral sclerosis (ALS)

BA04277 / ANTXR2 Hereditary systemic hyalinosis

BA04820 / APC Familial adenomatous polyposis (FAP)

BA04573 / AR Kennedy disease

BA04916 / ARSB Mucopolysaccharidosis type VI

BA04901 / ASL Argininosuccinic Aciduria

BA05133 / ASPM Autosomal Recessive Primary Microcephaly (ASPM)

BA03838 / ATL1 Spastic paraplegia type 3A

BA04402 / ATXN1 Spinocerebellar ataxia type 1

BA04385 / ATXN2 Spinocerebellar ataxia type 2

B/C
BA03799 / BBS10 Bardet-Biedl syndrome 10

BA04384 / BBS4 Bardet-Biedl syndrome 4

BA05246 / BEST1 Vitelliform macular dystrophy

BA04576 / BRCA1 Breast-ovarian cancer syndrome

BA04603 / BRCA2 Breast-ovarian cancer syndrome 2

BA05131 / BRIP1 Fanconi Anemia

BA04575 / BSCL2 Spastic paraplegia

BA04964 / BTK X-linked agammaglobulinemia (XLA)

BA04655 / C12orf57 Temtamy syndrome

BA04821 / CCM2 Cerebral cavernous malformations

BA04386 / CENPJ Microcephaly

BA04578 / CEP290 Meckel-Gruber syndrome

BA03800 / CFTR Cystic fibrosis

BA04388 / CHM Choroideremia

BA05363 / CHRNG Multiple pterygium syndrome

BA04569 / CLCN1 Myotonia congenita

BA04914 / CLN3 CLN3 disease

BA03802 / COL11A1 Stickler syndrome

BA03803 / COL1A1 Osteogenesis imperfecta

BA05143 / COL1A2 Osteogenesis imperfecta

BA03804 / COL2A1 Spondyloepiphyseal dysplasia

BA04824 / COL4A5 Alport syndrome

BA04658 / COL6A1 Ullrich myopathy

BA04604 / COL7A1 Dystrophic epidermolysis bullosa

BA04622 / COQ4 Primary coenzyme Q10 deficiency

BA04632 / CPLANE1 (C5orf42) > Joubert syndrome

BA04389 / CSF1R (C5orf42) > Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

BA04921 / CYP1B1 (C5orf42) > Early-onset glaucoma

BA03805 / CYP21A2 > Congenital adrenal hyperplasia

D/E/F
BA03806 / D4Z4 > Facioscapulohumeral muscular dystrophy (FSHD)

BA04904 / DCAF17 (C2orf37) > Woodhouse-Sakati syndrome

BA05211 / Deletion 15q11.2 > Deletion 15q11.2 (PWS/AS region)

BA05200 / Deletion 5p > Cri-du-chat syndrome

BA03807 / DMD > Duchenne muscular dystrophy

BA03808 / DMPK > Steinert disease (Myotonic dystrophy type 1)

BA04736 / DNAH5 > Primary ciliary dyskinesia/Heterotaxy

BA04966 / DNAI2 > Ciliary dyskinesia, primary, 9

BA03809 / DYNC2H1 > Jeune syndrome

BA04898 / ECEL1 > Distal arthrogryposis type 5D

BA04605 / ECHS1 > Mitochondrial syndrome

BA04732 / ECM1 > Lipoid proteinosis

BA04390 / EDA > Hypohidrotic ectodermal dysplasia

BA04659 / ELAC2 > Hypertrophic cardiomyopathy

BA05137 / ERF > Craniosynostosis

BA05205 / ETFDH > Glutaric acidemia type II

BA03811 / EVC, EVC2 > Ellis-van Creveld syndrome

BA03812 / EXT1 > Exostoses type 1

BA03813 / EXT2 > Exostoses type 2

BA03814 / F8 > Hemophilia A

BA03815 / FBN1 > Marfan syndrome

BA04967 / FGA > Hereditary renal amyloidosis

BA04391 / FGFR3 > Achondroplasia

BA04606 / FH > Hereditary leiomyomatosis and renal cell cancer (HLRCC)

BA05154 / FKRP > FKRP-related muscular dystrophy

BA05333 / FLG > Ichthyosis vulgaris

BA03816 / FMR1 > Fragile-X syndrome

BA03817 / FUS > Amyotrophic lateral sclerosis (ALS)

G/H/I
BA04549 / GALC > Krabbe disease

BA03818 / GALNS > Mucopolysaccharidosis IV

BA04574 / GALT > Galactosemia

BA05206 / GBA > Gaucher disease

BA05220 / GCDH > Glutaric acidemia type I

BA03819 / GJA1 > Oculodentodigital dysplasia

BA05364 / GJA8 > Cataract

BA05207 / GJB2 > Nonsyndromic Hearing Loss, DFNB1/DFNA3

BA04654 / GLB1 > GM1 ganglioside

BA04657 / GLDC > Glycine encephalopathy

BA04653 / GRIA3 > Mental retardation

BA05288 / HADHA > Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

BA03864 / HBA1, HBA2 > Alpha thalassemia

BA03820 / HBB > Beta thalassemia

BA04819 / HBB, HLA > Beta-thalassemia & Histocompatibility

BA03822 / HEXA > Tay-Sachs disease

BA03823 / HLA > Histocompatibility

BA04725 / HMGCL > HMGCL deficiency

BA04392 / HNF1B > Renal cysts and diabetes syndrome

BA03821 / HTT > Huntington

BA04681 / IDS > Mucopolysaccharidosis type II (Hunter Syndrome)

BA05168 / IDUA > Mucopolysaccharidosis type I (MPS I)

BA03824 / IL2RG > X-linked combined immunodeficiency

BA04634 / ITGA2B > Glanzmann thrombasthenia

K/L/M/N/O
BA04825 / KCNH2 > Short QT syndrome

BA05139 / KCNT1 > KCNT1-Related Epilepsy

BA05135 / KDM6A > Kabuki syndrome

BA05208 / KMT2D > Kabuki Syndrome (KMT2D)

BA05366 / KRT14 > Epidermolysis bullosa simplex (KRT14)

BA05365 / KRT5 > Epidermolysis bullosa simplex (KRT5)

BA04382 / L1CAM > Hydrocephalus

BA04588 / LAMA2 > LAMA2-related muscular dystrophy

BA04584 / LAMA3 > Epidermolysis bullosa

BA03826 / LAMB3 > Junctional epidermolysis bullosa

BA04726 / LIPH > Autosomal recessive hypotrichosis

BA03827 / LMNA > Dilated cardiomyopathy

BA03829 / MEN1 > Multiple endocrine neoplasia

BA04403 / MKS1 > Meckel Gruber syndrome

BA04899 / MMAB > Methylmalonic Acidemia

BA05367 / MPDZ > Hydrocephalus, congenital, 2

BA03801 / MPZ (CMT1B) > Charcot-Marie-Tooth type 1B

BA03828 / MSH2 > Lynch syndrome

BA04393 / MYBPC3 > Hypertrophic cardiomyopathy

BA04394 / MYH7 > Miopathy

BA04577 / NF1 > Neurofibromatosis type 1

BA03830 / NOTCH3 > CADASIL

BA05242 / NPC1 > Niemann-Pick disease (NPC1)

BA05209 / NPHS2 > Nephrotic syndrome, type 2

BA05368 / NPPA > Atrial fibrillation, familial

BA04905 / NSD1 > Sotos syndrome

BA04730 / OSTM1 > Osteopetrosis, AR 5

BA03831 / OTC > Ornithine transcarbamylase deficiency

BA04822 / OTOF > DFNB9 Nonsyndromic Hearing Loss

P/R
BA04395 / PAX6 > Aniridia

BA04735 / PDE6C > Achromatopsia / Cone-rod dystrophy

BA04579 / PEX16 > Zellweger syndrome

BA05369 / PEX2 > Zellweger syndrome (PEX2)

BA04571 / PHEX > Hypophosphatemic rickets

BA04727 / PHKB > Glycogen storage disease type IX

BA03832 / PKD1 > Polycystic kidney disease 1

BA03833 / PKD2 > Polycystic kidney disease 2

BA03834 / PKHD1 > Polycystic kidney disease AR

BA04404 / PLP1 > Pelizaeus-Merzbacher disease

BA04387 / PMM2 > Congenital disorder of glycosylation

BA04396 / PMP22 (CMT1A) > Charcot-Marie-Tooth type 1A and 1E

BA05170 / POLG > Alpers-Huttenlocher syndrome

BA04656 / POMGNT2 > Walker-Warburg syndrome

BA03785 / POMK > Muscular dystrophy-dystroglycanopathy

BA05370 / PRKG1 > Aortic aneurysm, familial thoracic

BA04607 / PRPH2 > Stargardt disease

BA04922 / PTF1A > Pancreatic agenesis 2

BA04728 / RAB3GAP1 > RAB18 deficiency

BA05147 / RAG1 > Combined immunodeficiency due to RAG1 deficiency

BA05210 / RAG2 > Omenn syndrome

BA04586 / RB1 > Retinoblastoma

BA03835 / RET > Multiple endocrine neoplasia type 2

BA03836 / RHO > Retinitis pigmentosa

BA04734 / RPGRIP1 > Leber congenital amaurosis

BA03837 / RYR1 > Central core disease

S/T
BA04587 / SCN4A > Paramyotonia

BA05233 / SERPINA1 > Alpha-1 antitrypsin deficiency

BA05371 / SLC12A1 > Bartter syndrome type I

BA04902 / SLC13A5 > Epileptic encephalopathy, early infantile, 25

BA04763 / SLC26A3 > Congenital secretory diarrhea, chloride type

BA04915 / SLC2A2 > Fanconi-Bickel syndrome

BA04920 / SLC45A2 > Oculocutaneous albinism

BA04731 / SLC5A7 > Myasthenic syndrome, congenital, 20, presynaptic

BA03784 / SMN1 > Spinal muscular atrophy

BA04660 / SMPD1 > Niemann-Pick disease (SMPD1)

BA04397 / SPAST > Spastic paraplegia type 4

BA04900 / STXBP2 > Familial hemophagocytic lymphohistiocytosis

BA04903 / TBC1D7 > Macrocephaly/megalencephaly syndrome, AR

BA04919 / TBCE > Kenny-Caffey syndrome type 1

BA03839 / TBX5 > Holt-Oram syndrome

BA03840 / TCOF1 > Treacher-Collins syndrome

BA04826 / TCTN2 > Joubert syndrome

BA04398 / TGFBR1 > Loeys-Dietz syndrome

BA04631 / TGM1 > Hereditary ichthyosis

BA04570 / TNNT2 > Dilated cardiomyopathy

BA04405 / TNXB > Ehlers-Danlos syndrome, classical-like

BA04399 / TP53 > Li-Fraumeni syndrome

BA05141 / TREX1 > Aicardi-Goutieres syndrome

BA04652 / TRIP11 > Achondrogenesis type 1A

BA03841 / TSC1 > Tuberous sclerosis

BA04845 / TSEN54 > Pontocerebellar Hypoplasia

BA05215 / TTR > Transthyretin Amyloidosis

BA04733 / TUSC3 > Mental retardation, autosomal recessive 7

BA03842 / TWIST1 > Saethre-Chotzen syndrome

U/V/W
BA03843 / UNC13D > Hemophagocytic lymphohistiocytosis 3

BA05328 / UPB1 > Beta-ureidopropionase deficiency

BA04400 / VHL > Von Hippel-Lindau syndrome

BA04401 / VPS13B > Cohen syndrome

BA04823 / WAS > Wiskott-Aldrich syndrome

BA04762 / WDR62 > Autosomal recessive primary microcephaly (WDR62)

BA04917 / WWOX > Spinocerebellar ataxia, AR 12

BA04838 / ABCA3 Pulmonary surfactant dysfunction due to ABCA3 deficiency

BA04362 / ABCB11 Progressive familial intrahepatic cholestasis

BA04764 / ABCB4 Intrahepatic cholestasis type 3

BA05212 / ABCC8,KCNJ11 >
Neonatal diabetes mellitus 3

BA03825 / ABCD1 >
Adrenoleukodystrophy X-Linked

BA04913 / ABCG5 Sitosterolemia

BA03798 / ACADM Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

BA04918 / ACADS Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

BA04572 / ACADVL Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

BA04965 / ADA Adenosine deaminase deficiency

BA04633 / ADAT3 Mental retardation

BA04582 / AGL Glycogen storage disease type III

BA04406 / AIMP2 Progressive neurodevelopmental disorder

BA05145 / ALOX12B Self-healing collodion baby

BA04804 / ALPL Hypophosphatasia

BA04383 / ALS2 Amyotrophic lateral sclerosis (ALS)

BA04277 / ANTXR2 Hereditary systemic hyalinosis

BA04820 / APC Familial adenomatous polyposis (FAP)

BA04573 / AR Kennedy disease

BA04916 / ARSB Mucopolysaccharidosis type VI

BA04901 / ASL Argininosuccinic Aciduria

BA05133 / ASPM Autosomal Recessive Primary Microcephaly (ASPM)

BA03838 / ATL1 Spastic paraplegia type 3A

BA04402 / ATXN1 Spinocerebellar ataxia type 1

BA04385 / ATXN2 Spinocerebellar ataxia type 2

BA03799 / BBS10 Bardet-Biedl syndrome 10

BA04384 / BBS4 Bardet-Biedl syndrome 4

BA05246 / BEST1 Vitelliform macular dystrophy

BA04576 / BRCA1 Breast-ovarian cancer syndrome

BA04603 / BRCA2 Breast-ovarian cancer syndrome 2

BA05131 / BRIP1 Fanconi Anemia

BA04575 / BSCL2 Spastic paraplegia

BA04964 / BTK X-linked agammaglobulinemia (XLA)

BA04655 / C12orf57 Temtamy syndrome

BA04821 / CCM2 Cerebral cavernous malformations

BA04386 / CENPJ Microcephaly

BA04578 / CEP290 Meckel-Gruber syndrome

BA03800 / CFTR Cystic fibrosis

BA04388 / CHM Choroideremia

BA05363 / CHRNG Multiple pterygium syndrome

BA04569 / CLCN1 Myotonia congenita

BA04914 / CLN3 CLN3 disease

BA03802 / COL11A1 Stickler syndrome

BA03803 / COL1A1 Osteogenesis imperfecta

BA05143 / COL1A2 Osteogenesis imperfecta

BA03804 / COL2A1 Spondyloepiphyseal dysplasia

BA04824 / COL4A5 Alport syndrome

BA04658 / COL6A1 Ullrich myopathy

BA04604 / COL7A1 Dystrophic epidermolysis bullosa

BA04622 / COQ4 Primary coenzyme Q10 deficiency

BA04632 / CPLANE1 (C5orf42) > Joubert syndrome

BA04389 / CSF1R (C5orf42) > Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

BA04921 / CYP1B1 (C5orf42) > Early-onset glaucoma

BA03805 / CYP21A2 > Congenital adrenal hyperplasia

BA03806 / D4Z4 > Facioscapulohumeral muscular dystrophy (FSHD)

BA04904 / DCAF17 (C2orf37) > Woodhouse-Sakati syndrome

BA05211 / Deletion 15q11.2 > Deletion 15q11.2 (PWS/AS region)

BA05200 / Deletion 5p > Cri-du-chat syndrome

BA03807 / DMD > Duchenne muscular dystrophy

BA03808 / DMPK > Steinert disease (Myotonic dystrophy type 1)

BA04736 / DNAH5 > Primary ciliary dyskinesia/Heterotaxy

BA04966 / DNAI2 > Ciliary dyskinesia, primary, 9

BA03809 / DYNC2H1 > Jeune syndrome

BA04898 / ECEL1 > Distal arthrogryposis type 5D

BA04605 / ECHS1 > Mitochondrial syndrome

BA04732 / ECM1 > Lipoid proteinosis

BA04390 / EDA > Hypohidrotic ectodermal dysplasia

BA04659 / ELAC2 > Hypertrophic cardiomyopathy

BA05137 / ERF > Craniosynostosis

BA05205 / ETFDH > Glutaric acidemia type II

BA03811 / EVC, EVC2 > Ellis-van Creveld syndrome

BA03812 / EXT1 > Exostoses type 1

BA03813 / EXT2 > Exostoses type 2

BA03814 / F8 > Hemophilia A

BA03815 / FBN1 > Marfan syndrome

BA04967 / FGA > Hereditary renal amyloidosis

BA04391 / FGFR3 > Achondroplasia

BA04606 / FH > Hereditary leiomyomatosis and renal cell cancer (HLRCC)

BA05154 / FKRP > FKRP-related muscular dystrophy

BA05333 / FLG > Ichthyosis vulgaris

BA03816 / FMR1 > Fragile-X syndrome

BA03817 / FUS > Amyotrophic lateral sclerosis (ALS)

BA04549 / GALC > Krabbe disease

BA03818 / GALNS > Mucopolysaccharidosis IV

BA04574 / GALT > Galactosemia

BA05206 / GBA > Gaucher disease

BA05220 / GCDH > Glutaric acidemia type I

BA03819 / GJA1 > Oculodentodigital dysplasia

BA05364 / GJA8 > Cataract

BA05207 / GJB2 > Nonsyndromic Hearing Loss, DFNB1/DFNA3

BA04654 / GLB1 > GM1 ganglioside

BA04657 / GLDC > Glycine encephalopathy

BA04653 / GRIA3 > Mental retardation

BA05288 / HADHA > Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

BA03864 / HBA1, HBA2 > Alpha thalassemia

BA03820 / HBB > Beta thalassemia

BA04819 / HBB, HLA > Beta-thalassemia & Histocompatibility

BA03822 / HEXA > Tay-Sachs disease

BA03823 / HLA > Histocompatibility

BA04725 / HMGCL > HMGCL deficiency

BA04392 / HNF1B > Renal cysts and diabetes syndrome

BA03821 / HTT > Huntington

BA04681 / IDS > Mucopolysaccharidosis type II (Hunter Syndrome)

BA05168 / IDUA > Mucopolysaccharidosis type I (MPS I)

BA03824 / IL2RG > X-linked combined immunodeficiency

BA04634 / ITGA2B > Glanzmann thrombasthenia

BA04825 / KCNH2 > Short QT syndrome

BA05139 / KCNT1 > KCNT1-Related Epilepsy

BA05135 / KDM6A > Kabuki syndrome

BA05208 / KMT2D > Kabuki Syndrome (KMT2D)

BA05366 / KRT14 > Epidermolysis bullosa simplex (KRT14)

BA05365 / KRT5 > Epidermolysis bullosa simplex (KRT5)

BA04382 / L1CAM > Hydrocephalus

BA04588 / LAMA2 > LAMA2-related muscular dystrophy

BA04584 / LAMA3 > Epidermolysis bullosa

BA03826 / LAMB3 > Junctional epidermolysis bullosa

BA04726 / LIPH > Autosomal recessive hypotrichosis

BA03827 / LMNA > Dilated cardiomyopathy

BA03829 / MEN1 > Multiple endocrine neoplasia

BA04403 / MKS1 > Meckel Gruber syndrome

BA04899 / MMAB > Methylmalonic Acidemia

BA05367 / MPDZ > Hydrocephalus, congenital, 2

BA03801 / MPZ (CMT1B) > Charcot-Marie-Tooth type 1B

BA03828 / MSH2 > Lynch syndrome

BA04393 / MYBPC3 > Hypertrophic cardiomyopathy

BA04394 / MYH7 > Miopathy

BA04577 / NF1 > Neurofibromatosis type 1

BA03830 / NOTCH3 > CADASIL

BA05242 / NPC1 > Niemann-Pick disease (NPC1)

BA05209 / NPHS2 > Nephrotic syndrome, type 2

BA05368 / NPPA > Atrial fibrillation, familial

BA04905 / NSD1 > Sotos syndrome

BA04730 / OSTM1 > Osteopetrosis, AR 5

BA03831 / OTC > Ornithine transcarbamylase deficiency

BA04822 / OTOF > DFNB9 Nonsyndromic Hearing Loss

BA04395 / PAX6 > Aniridia

BA04735 / PDE6C > Achromatopsia / Cone-rod dystrophy

BA04579 / PEX16 > Zellweger syndrome

BA05369 / PEX2 > Zellweger syndrome (PEX2)

BA04571 / PHEX > Hypophosphatemic rickets

BA04727 / PHKB > Glycogen storage disease type IX

BA03832 / PKD1 > Polycystic kidney disease 1

BA03833 / PKD2 > Polycystic kidney disease 2

BA03834 / PKHD1 > Polycystic kidney disease AR

BA04404 / PLP1 > Pelizaeus-Merzbacher disease

BA04387 / PMM2 > Congenital disorder of glycosylation

BA04396 / PMP22 (CMT1A) > Charcot-Marie-Tooth type 1A and 1E

BA05170 / POLG > Alpers-Huttenlocher syndrome

BA04656 / POMGNT2 > Walker-Warburg syndrome

BA03785 / POMK > Muscular dystrophy-dystroglycanopathy

BA05370 / PRKG1 > Aortic aneurysm, familial thoracic

BA04607 / PRPH2 > Stargardt disease

BA04922 / PTF1A > Pancreatic agenesis 2

BA04728 / RAB3GAP1 > RAB18 deficiency

BA05147 / RAG1 > Combined immunodeficiency due to RAG1 deficiency

BA05210 / RAG2 > Omenn syndrome

BA04586 / RB1 > Retinoblastoma

BA03835 / RET > Multiple endocrine neoplasia type 2

BA03836 / RHO > Retinitis pigmentosa

BA04734 / RPGRIP1 > Leber congenital amaurosis

BA03837 / RYR1 > Central core disease

BA04587 / SCN4A > Paramyotonia

BA05233 / SERPINA1 > Alpha-1 antitrypsin deficiency

BA05371 / SLC12A1 > Bartter syndrome type I

BA04902 / SLC13A5 > Epileptic encephalopathy, early infantile, 25

BA04763 / SLC26A3 > Congenital secretory diarrhea, chloride type

BA04915 / SLC2A2 > Fanconi-Bickel syndrome

BA04920 / SLC45A2 > Oculocutaneous albinism

BA04731 / SLC5A7 > Myasthenic syndrome, congenital, 20, presynaptic

BA03784 / SMN1 > Spinal muscular atrophy

BA04660 / SMPD1 > Niemann-Pick disease (SMPD1)

BA04397 / SPAST > Spastic paraplegia type 4

BA04900 / STXBP2 > Familial hemophagocytic lymphohistiocytosis

BA04903 / TBC1D7 > Macrocephaly/megalencephaly syndrome, AR

BA04919 / TBCE > Kenny-Caffey syndrome type 1

BA03839 / TBX5 > Holt-Oram syndrome

BA03840 / TCOF1 > Treacher-Collins syndrome

BA04826 / TCTN2 > Joubert syndrome

BA04398 / TGFBR1 > Loeys-Dietz syndrome

BA04631 / TGM1 > Hereditary ichthyosis

BA04570 / TNNT2 > Dilated cardiomyopathy

BA04405 / TNXB > Ehlers-Danlos syndrome, classical-like

BA04399 / TP53 > Li-Fraumeni syndrome

BA05141 / TREX1 > Aicardi-Goutieres syndrome

BA04652 / TRIP11 > Achondrogenesis type 1A

BA03841 / TSC1 > Tuberous sclerosis

BA04845 / TSEN54 > Pontocerebellar Hypoplasia

BA05215 / TTR > Transthyretin Amyloidosis

BA04733 / TUSC3 > Mental retardation, autosomal recessive 7

BA03842 / TWIST1 > Saethre-Chotzen syndrome

BA03843 / UNC13D > Hemophagocytic lymphohistiocytosis 3

BA05328 / UPB1 > Beta-ureidopropionase deficiency

BA04400 / VHL > Von Hippel-Lindau syndrome

BA04401 / VPS13B > Cohen syndrome

BA04823 / WAS > Wiskott-Aldrich syndrome

BA04762 / WDR62 > Autosomal recessive primary microcephaly (WDR62)

BA04917 / WWOX > Spinocerebellar ataxia, AR 12

Phone: +34 966 261 268
Information: info@journeygenomics.com
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Phone: +34 966 261 268
Information: info@journeygenomics.com
Orders: orders@journeygenomics.com