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
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
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
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
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
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
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
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
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
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
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
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
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
Contact us
Contact us

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