Dyskeratosis Congenita, Autosomal Dominant 1; Dkca1

Description

Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by Bessler et al., 2007 and Bessler et al., 2010).Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013). Genetic Heterogeneity of Dyskeratosis Congenita and Hoyeraal-Hreidarsson SyndromeDyskeratosis congenita is a genetically heterogeneous disorder, showing autosomal recessive, autosomal dominant, and X-linked inheritance. Additional autosomal dominant forms include DKCA2 (OMIM ), caused by mutation in the TERT gene (OMIM ) on chromosome 5p15; DKCA3 (OMIM ), caused by mutation in the TINF2 gene (OMIM ) on chromosome 14q12; DKCA4 (see {615190}), caused by mutation in the RTEL1 gene (OMIM ) on chromosome 20q13, DKCA5 (OMIM ), caused by mutation in the TINF2 gene (OMIM ) on chromosome 14q12, and DKCA6 (OMIM ), caused by mutation in the ACD gene (OMIM ) on chromosome 16q22.Autosomal recessive forms include DKCB1 (OMIM ), caused by mutation in the NOLA3 gene (OMIM ) on chromosome 15q14; DKCB2 (OMIM ), caused mutation in the NOLA2 gene (OMIM ) on chromosome 5q35; DKCB3 (OMIM ), caused by mutation in the TCAB1 gene (WRAP53 ) on chromosome 17p13; DKCB4 (see {613989}), caused by mutation in the TERT gene; DKCB5 (OMIM ), caused by mutation in the RTEL1 gene (OMIM ) on chromosome 20q13; DKCB6 (OMIM ), caused by mutation in the PARN gene (OMIM ) on chromosome 16p13; and DKCB7 (see {616553}), caused by mutation in the ACD gene (OMIM ) on chromosome 16q22. X-linked recessive DKCX (OMIM ) is caused by mutation in the dyskerin gene (DKC1 ) on Xq28.Hoyeraal-Hreidarsson syndrome, the severe clinical variant of DKC, can be caused by mutation in several different DKC-associated genes; see, e.g., DKC1 (OMIM ), TINF2 (OMIM ), TERT (OMIM ), and RTEL1 (OMIM ).See also adult-onset telomere-related pulmonary fibrosis and/or bone marrow failure-1 and -2 (PFBMFT1, {614742} and PFBMFT2, {614743}), which are caused by mutations in the TERT and TERC genes, respectively. These disorders share some features of DKC, but show later onset and do not have skin abnormalities. The disorders related to telomere shortening are part of a phenotypic spectrum.Mutation in the CTC1 gene (OMIM ) on chromosome 17p13 causes cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), another telomere-related disorder with overlapping features of DKC.

Clinical Features

Top most frequent phenotypes and symptoms related to Dyskeratosis Congenita, Autosomal Dominant 1; Dkca1

  • Global developmental delay
  • Short stature
  • Pica
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Cataract
  • Anemia
  • Neoplasm
  • Hepatomegaly
And another 78 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Dyskeratosis Congenita, Autosomal Dominant 1; Dkca1 have a estimated prevalence of 0.1 per 100k worldwide.


Mendelian

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Dyskeratosis Congenita, Autosomal Dominant 1; Dkca1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40 , (...)

View the complete list with 73 more genes
Specificity
7 %
Genes
50 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, MUC5B, CSF2RA, PARN, SFTPD, TERT, ELMOD2, TERC, BLOC1S6, DKC1, RTEL1, TINF2, AP3B1, HPS3, HPS4 , (...)

View the complete list with 5 more genes
Specificity
24 %
Genes
50 %
Diffuse Lung Disease NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, DKC1, SLC7A7, TINF2, FOXF1, AP3B1, HPS4, HPS1
Specificity
25 %
Genes
34 %
Telomere Shortening Disorders Spectrum NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

NOP10, NHP2, WRAP53, CTC1, TERT, TERC, DKC1, TINF2
Specificity
100 %
Genes
67 %
Idiopathic Pulmonary Fibrosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

SFTPA2, SFTPC, ABCA3, NKX2-1, TERT, TERC, DKC1, TINF2, AP3B1, HPS4, HPS1
Specificity
37 %
Genes
34 %
Bone Marrow Failure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RPL36, USB1, RPS7, RPS15, THPO, RPS27A, SRP72, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2 , (...)

View the complete list with 23 more genes
Specificity
19 %
Genes
67 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCD2, FANCI, FANCL, FANCM , (...)

View the complete list with 39 more genes
Specificity
16 %
Genes
75 %
Dyskeratosis Congenita panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NOP10, NHP2, WRAP53, TERT, TERC, DKC1, RTEL1, TINF2
Specificity
100 %
Genes
67 %
TERT Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TERT
Specificity
100 %
Genes
9 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCI, FANCL, FANCM, SLX4, FANCE , (...)

View the complete list with 35 more genes
Specificity
17 %
Genes
75 %
Dyskeratosis Congenita Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NOP10, NHP2, WRAP53, TERT, TERC, DKC1, RTEL1, TINF2
Specificity
100 %
Genes
67 %
TERT Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TERT
Specificity
100 %
Genes
9 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SAMD9L, SAMD9, NAF1, POT1, DNAJC21, ACD, CXCR4, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, USB1, RPS7, SRP72, ERCC4, XRCC2 , (...)

View the complete list with 41 more genes
Specificity
19 %
Genes
92 %
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel.

By Genetic Services Laboratory University of Chicago in United States.

NAF1, POT1, ACD, USB1, NOP10, NHP2, WRAP53, CTC1, PARN, TERT, TERC, DKC1, RTEL1, TINF2
Specificity
79 %
Genes
92 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RUNX1T1, SLFN14, CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8 , (...)

View the complete list with 23 more genes
Specificity
5 %
Genes
17 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX , (...)

View the complete list with 34 more genes
Specificity
6 %
Genes
25 %
Hereditary Leukemia and Breast Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, CHEK2, CDH1, PALB2, NBN, ATM, CBL, PTPN11 , (...)

View the complete list with 11 more genes
Specificity
10 %
Genes
25 %
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL).

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, RTEL1, CEBPA, PAX5, GATA2, ANKRD26, TP53, RUNX1
Specificity
20 %
Genes
25 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, DGKE, CFHR3, CFHR1, THBD, C3, CD46 , (...)

View the complete list with 23 more genes
Specificity
5 %
Genes
17 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

RAD51, UBE2T, SAMD9L, SAMD9, NAF1, POT1, DNAJC21, ACD, CXCR4, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, ETV6, IKZF1, USB1 , (...)

View the complete list with 59 more genes
Specificity
14 %
Genes
92 %
Basic Fibrosis Panel (12 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, MUC5B, CSF2RA, SFTPD, TERT, ELMOD2, TERC
Specificity
17 %
Genes
17 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...)

View the complete list with 44 more genes
Specificity
4 %
Genes
17 %
Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, MUC5B, CSF2RA, SFTPD, TERT, ELMOD2, TERC, BLOC1S6, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
17 %
TERT/TERC gene sequence and deletion/duplication.

By Ambry Genetics in United States.

TERT, TERC
Specificity
100 %
Genes
17 %
DCNext.

By Ambry Genetics in United States.

NOP10, NHP2, WRAP53, TERT, TERC, DKC1, TINF2
Specificity
100 %
Genes
59 %
TERT. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TERT
Specificity
100 %
Genes
9 %
TERT. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TERT
Specificity
100 %
Genes
9 %
Hereditary Melanoma Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

WRN, BAP1, TERT, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
9 %
Neonatal Respiratory Distress Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
19 %
Genes
25 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
19 %
Genes
25 %
Neonatal Respiratory Distress Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
19 %
Genes
25 %
Comprehensive Pulmonary-Vascular Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 45 more genes
Specificity
5 %
Genes
25 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 44 more genes
Specificity
5 %
Genes
25 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 44 more genes
Specificity
5 %
Genes
25 %
Dyskeratosis congenita (sequence analysis of TERT gene).

By CGC Genetics in Portugal.

TERT
Specificity
100 %
Genes
9 %
Dyskeratosis congenita (NGS panel for 8 genes).

By CGC Genetics in Portugal.

NOP10, NHP2, WRAP53, TERT, TERC, DKC1, RTEL1, TINF2
Specificity
100 %
Genes
67 %
Pulmonary fibrosis and/or bone marrow failure (sequence analysis of TERT gene).

By CGC Genetics in Portugal.

TERT
Specificity
100 %
Genes
9 %
Pulmonary fibrosis and/or bone marrow failure (sequence analysis of TERT gene).

By CGC Genetics in Portugal.

TERT
Specificity
100 %
Genes
9 %
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NOP10, NHP2, WRAP53, CTC1, TERT, TERC, DKC1, TINF2
Specificity
100 %
Genes
67 %
Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DDX41, SAMD9L, ETV6, SRP72, TERT, TERC, CEBPA, GATA2, ANKRD26, TP53, RUNX1
Specificity
19 %
Genes
17 %
Dyskeratosis Congenita (DC) via TERT Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TERT
Specificity
100 %
Genes
9 %
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, SFTPD, TERT, ELMOD2, TERC
Specificity
20 %
Genes
17 %
Interstitial Lung Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A2, ITGA3, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, PARN, TERT, TERC, DKC1, NF1, RTEL1, SLC7A7, FLCN, TSC1, TSC2, TINF2, CFTR , (...)

View the complete list with 4 more genes
Specificity
25 %
Genes
50 %
Dyskeratosis congenita NGS panel.

By Connective Tissue Gene Tests in United States.

ACD, USB1, NOP10, NHP2, WRAP53, CTC1, PARN, TERT, TERC, DKC1, RTEL1, TINF2
Specificity
92 %
Genes
92 %
Dyskeratosis congenita Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ACD, USB1, NOP10, NHP2, WRAP53, CTC1, PARN, TERT, TERC, DKC1, RTEL1, TINF2
Specificity
92 %
Genes
92 %
Dyskeratosis congenita Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ACD, USB1, NOP10, NHP2, WRAP53, CTC1, PARN, TERT, TERC, DKC1, RTEL1, TINF2
Specificity
92 %
Genes
92 %
Aplastic anemia.

By Centogene AG - the Rare Disease Company in Germany.

TERT
Specificity
100 %
Genes
9 %
Dyskeratosis congenita, AD type 1.

By Centogene AG - the Rare Disease Company in Germany.

TERT
Specificity
100 %
Genes
9 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

GDNF, ASCL1, BDNF, NOP10, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...)

View the complete list with 46 more genes
Specificity
11 %
Genes
59 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

DDB2, POLH, XPC, RHBDF2, GTF2H5, CYLD, XPA, ERCC5, PDGFRB, FERMT1, ERCC8, AKT1, AXIN2, PIK3CA, ERCC4, NOP10, NHP2, WRAP53, CTC1, ERCC6 , (...)

View the complete list with 25 more genes
Specificity
20 %
Genes
75 %
Dyskeratosis congenita Panel.

By CeGaT GmbH in Germany.

USB1, NOP10, NHP2, WRAP53, CTC1, TERT, TERC, DKC1, RTEL1, TINF2
Specificity
100 %
Genes
84 %
Bone marrow failure syndromes Panel.

By CeGaT GmbH in Germany.

IFNG, LIG4, STXBP2, STX11, SRP72, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, WRAP53, CTC1, CSF2RA , (...)

View the complete list with 17 more genes
Specificity
25 %
Genes
75 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

SP110, RPSA, FCGR3A, ZBTB24, MCM4, SPINK5, RNF168, DNMT3B, TYK2, SMARCAL1, PDGFRA, NOD2, NHP2, CFH, FGF10, ADAR, DOCK8, TERT, TERC, DKC1 , (...)

View the complete list with 18 more genes
Specificity
14 %
Genes
42 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

FPR1, FCGR3B, MPO, ACKR1, IRF8, CEBPE, ITGB2, NCF1, ISG15, IL12B, JAGN1, IL12RB1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
17 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF , (...)

View the complete list with 60 more genes
Specificity
3 %
Genes
17 %
Invitae Dyskeratosis Congenita Panel.

By Invitae in United States.

NOP10, NHP2, CTC1, TERT, TERC, DKC1, TINF2
Specificity
100 %
Genes
59 %
Invitae Bone Marrow Failure Syndromes Panel.

By Invitae in United States.

RPL26, ELANE, RPS7, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, CTC1, TERT, TERC, DKC1 , (...)

View the complete list with 19 more genes
Specificity
18 %
Genes
59 %
Invitae Pediatric Hematologic Malignancies Panel.

By Invitae in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
13 %
Genes
17 %
Invitae Myelodysplastic Syndrome/Leukemia Panel.

By Invitae in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
13 %
Genes
17 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

IRF7, RORC, DCLRE1B, DOCK2, MAP3K14, NFAT5, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, FPR1, SP110, TNFSF12, IKBKB, LCK, CTPS1, ZBTB24, ADAM17, BCL10 , (...)

View the complete list with 187 more genes
Specificity
5 %
Genes
75 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

DCLRE1B, SP110, ZBTB24, SPINK5, DNMT3B, PGM3, ACD, TTC7A, SMARCAL1, EPG5, WIPF1, NFKBIA, FOXN1, ORAI1, STAT5B, POLE, STIM1, NOP10, NHP2, CTC1 , (...)

View the complete list with 17 more genes
Specificity
25 %
Genes
75 %
Pulmonary fibrosis, idiopathic: TERT gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TERT
Specificity
100 %
Genes
9 %
ONCOLOGY, PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA , (...)

View the complete list with 60 more genes
Specificity
4 %
Genes
25 %
Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

FOXA1, FOXA2, DMBT1, SFTPA2, SFTPB, SFTPC, ABCA3, MUC5B, CSF2RB, CSF2RA, SFTPD, TERT, TERC
Specificity
16 %
Genes
17 %
Pulmonary Disease: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDNF, ASCL1, BDNF, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
9 %
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SFTPA1, SFTPB, SFTPC, ABCA3, MUC5B, CSF2RA, SFTPD, TERT, ELMOD2, BLOC1S6, AP3B1, HPS3, HPS4, HPS6, BLOC1S3, HPS1, DTNBP1
Specificity
6 %
Genes
9 %
Interstitial Lung Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NKX1-1, SFTPB, SFTPC, ABCA3, CSF2RB, CSF2RA, TERT
Specificity
15 %
Genes
9 %
Interstitial Lung Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SFTPB, SFTPC, ABCA3, CSF2RA, TERT
Specificity
20 %
Genes
9 %
Melanoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

WRN, TERT, MITF, ERCC3, CDKN2A, CDK4, TYR, MC1R, RB1, TP53, PTEN, BRCA2, BRCA1
Specificity
8 %
Genes
9 %
Dyskeratosis Congenita NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NOP10, NHP2, WRAP53, CTC1, TERT, TERC, DKC1, TINF2
Specificity
100 %
Genes
67 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
9 %
Lung Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B , (...)

View the complete list with 31 more genes
Specificity
4 %
Genes
17 %
TERT.

By Fulgent Genetics Fulgent Genetics in United States.

TERT
Specificity
100 %
Genes
9 %
Hematologic Malignancy Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
13 %
Genes
17 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
9 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

SET, ELL, GAS6, AFF1, ACSL6, ARHGAP26, AFDN, MLLT10, MRTFA, NUP98, ELF4, ERG, FOXO4, MYB, RBM15, EGR1, MECOM, RPN1, MLLT1, MLLT3 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
9 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

NUTM2B, NUTM2A, SSX2, MALAT1, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, ACSL3, RABEP1, SSX1, SS18, POU5F1, HEY1, JUN , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
9 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8 , (...)

View the complete list with 255 more genes
Specificity
4 %
Genes
92 %
Dyskeratosis Congenita Panel.

By Blueprint Genetics in Finland.

DCLRE1B, USB1, NOP10, NHP2, WRAP53, CTC1, PARN, TERT, TERC, DKC1, RTEL1, TINF2, AK2
Specificity
85 %
Genes
92 %
Hereditary Leukemia Panel.

By Blueprint Genetics in Finland.

DDX41, SAMD9L, ETV6, IKZF1, SRP72, FANCA, TERT, TERC, DKC1, NF1, CEBPA, SBDS, PAX5, GATA2, CDKN2A, NBN, ATM, CBL, MAP2K2, RIT1 , (...)

View the complete list with 19 more genes
Specificity
11 %
Genes
34 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L , (...)

View the complete list with 126 more genes
Specificity
3 %
Genes
34 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12 , (...)

View the complete list with 219 more genes
Specificity
5 %
Genes
92 %
Hermansky-Pudlak Syndrome Panel.

By Blueprint Genetics in Finland.

AP3D1, SFTPB, SFTPC, ABCA3, TERT, TERC, LYST, BLOC1S6, DKC1, TINF2, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, GPR143, TYR , (...)

View the complete list with 3 more genes
Specificity
18 %
Genes
34 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

ERCC6L2, SMARCD2, RPS29, DDX41, SAMD9L, SAMD9, DNAJC21, PGM3, ACD, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK , (...)

View the complete list with 102 more genes
Specificity
9 %
Genes
84 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

SLC34A2, PIH1D3, SLC6A5, GLRA1, ITGA3, SFTPA1, SFTPA2, DNAI1, SFTPB, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...)

View the complete list with 46 more genes
Specificity
10 %
Genes
50 %
Interstitial Lung Disease Panel.

By Blueprint Genetics in Finland.

SLC34A2, ITGA3, SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, CSF2RA, PARN, TERT, ELMOD2, TERC, DKC1, NF1, RTEL1, SLC7A7, TSC1, TSC2 , (...)

View the complete list with 5 more genes
Specificity
24 %
Genes
50 %
Dyskeratosis congenita type 1.

By Bioarray in Spain.

TERT
Specificity
100 %
Genes
9 %
Idiopathic pulmonary fibrosis type 1.

By Bioarray in Spain.

TERT
Specificity
100 %
Genes
9 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
9 %
Hematopoietic Disorders Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TSLP, FGFR4, TET1, BIRC3, PDGFRB, NOTCH2, IL7R, CSF3R, ETV6, FBXW7, IDH1, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
9 %
CNS Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
9 %
Melanoma Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

KMT2C, ROS1, RAC1, ERBB4, ERBB2, CCND1, PDGFRB, AKT1, GNA11, PDGFRA, EGFR, GNAQ, PIK3CA, BAP1, KIT, TERT, MTOR, CTNNB1, MED12, KMT2D , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
9 %
Genitourinary Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PBRM1, CDKN1A, KMT2C, RXRA, ERBB2, PIK3R1, AKT1, AKT3, FBXW7, STAG2, EGFR, AKT2, PIK3CA, BAP1, ERBB3, TERT, KDM6A, MTOR, MED12, ERCC2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
9 %
Guardant360.

By Guardant Health in United States.

MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
9 %
Hereditary Cancer Comprehensive Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA , (...)

View the complete list with 53 more genes
Specificity
3 %
Genes
17 %
Inherited Bone Marrow Failure Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

TERF1, TERF2, DDX41, POT1, TERF2IP, ACD, GFI1, RPL26, G6PC3, RPL15, ELANE, CSF3R, ETV6, RPS7, THPO, SRP72, ERCC4, XRCC2, FANCD2, FANCI , (...)

View the complete list with 38 more genes
Specificity
16 %
Genes
75 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
17 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
9 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
9 %
DYSKERATOSIS CONGENITA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

TERT, RTEL1, TINF2
Specificity
100 %
Genes
25 %
IDIOPATHIC PULMONARY FIBROSIS.

By Laboratorio de Genetica Clinica SL in Spain.

SFTPA2, TERT
Specificity
50 %
Genes
9 %
Congenital Dyskeratosis , Sequencing TERT Gene.

By Reference Laboratory Genetics in Spain.

TERT
Specificity
100 %
Genes
9 %
Idiopathic Pulmonary Fibrosis , Sequencing TERT Gene.

By Reference Laboratory Genetics in Spain.

TERT
Specificity
100 %
Genes
9 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, G6PC3, ELANE, CSF3R, JAK2, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCD2, FANCI, FANCL, SLX4, FANCE , (...)

View the complete list with 38 more genes
Specificity
16 %
Genes
75 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.

By Reference Laboratory Genetics in Spain.

PTGER4, IRGM, IL23R, FUT2, ATG16L1, ADAM17, IL6, IL17RA, IL21R, IL21, GUCY2C, MYO5B, NCF1, PLCG2, IL10, IL2RA, IL10RB, ICOS, CARD9, IL17F , (...)

View the complete list with 25 more genes
Specificity
12 %
Genes
42 %
Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BAP1, TERT, MITF, CDKN2A, CDK4, MC1R, RB1, TP53, PTEN, BRCA2
Specificity
10 %
Genes
9 %
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

SH3GL1, LPP, CBFB, PICALM, IDH1, JAK2, NPM1, FLT3, ASXL1, KIT, TERT, TERC, DNMT3A, CEBPA, GATA2, NSD1, KRAS, IDH2, WT1, TP53 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
17 %
Idiopathic Aplastic Anemia , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

IFNG, TERT, TERC, PRF1, SBDS, NBN
Specificity
34 %
Genes
17 %
Congenital Dyskeratosis , Panel Massive Sequencing (NGS) 8 genes.

By Reference Laboratory Genetics in Spain.

NOP10, NHP2, WRAP53, CTC1, TERT, TERC, DKC1, TINF2
Specificity
100 %
Genes
67 %
Familial Pulmonary Fibrosis and Pulmonary Surfactant Metabolism Dysfunction , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

SFTPA2, SFTPB, SFTPC, ABCA3, MUC5B, CSF2RB, CSF2RA, TERT, TERC
Specificity
23 %
Genes
17 %
Phosphorus Leukemia including Fanconi Anemia Genes Panel.

By Phosphorus Diagnostics LLC in United States.

ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, TERT, TERC, DKC1, FANCB, NF1, RAD51C, CEBPA, GATA2, BRIP1 , (...)

View the complete list with 15 more genes
Specificity
12 %
Genes
34 %
Phosphorus Leukemia Panel.

By Phosphorus Diagnostics LLC in United States.

TERT, TERC, DKC1, NF1, CEBPA, GATA2, NBN, ATM, TINF2, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
23 %
Genes
34 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT , (...)

View the complete list with 63 more genes
Specificity
3 %
Genes
17 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
17 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
42 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
59 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC , (...)

View the complete list with 123 more genes
Specificity
3 %
Genes
34 %
TERC (hTR) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TERC
Specificity
100 %
Genes
9 %
TERC (hTR) Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TERC
Specificity
100 %
Genes
9 %
TERC Gene Sequencing.

By GeneDx in United States.

TERC
Specificity
100 %
Genes
9 %
TERC. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TERC
Specificity
100 %
Genes
9 %
TERC. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TERC
Specificity
100 %
Genes
9 %
Dyskeratosis congenita 1, AD (sequence analysis of TERC gene).

By CGC Genetics in Portugal.

TERC
Specificity
100 %
Genes
9 %
Dyskeratosis Congenita (DC) via TERC Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TERC
Specificity
100 %
Genes
9 %
Aplastic anemia.

By Centogene AG - the Rare Disease Company in Germany.

TERC
Specificity
100 %
Genes
9 %
Dyskeratosis congenita, AD type 1.

By Centogene AG - the Rare Disease Company in Germany.

TERC
Specificity
100 %
Genes
9 %
NGS Panel for Dyskeratosis congenita.

By BLOODGENETICS BLOODGENETICS in Spain.

TERC
Specificity
100 %
Genes
9 %
Pulmonary fibrosis, idiopathic: TERC gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TERC
Specificity
100 %
Genes
9 %
TERC.

By Fulgent Genetics Fulgent Genetics in United States.

TERC
Specificity
100 %
Genes
9 %
Dyskeratosis congenita type 1.

By Bioarray in Spain.

TERC
Specificity
100 %
Genes
9 %
Idiopathic pulmonary fibrosis type 2.

By Bioarray in Spain.

TERC
Specificity
100 %
Genes
9 %
Congenital Dyskeratosis , Sequencing TERC Gene.

By Reference Laboratory Genetics in Spain.

TERC
Specificity
100 %
Genes
9 %
Idiopathic Pulmonary Fibrosis , Sequencing TERC Gene.

By Reference Laboratory Genetics in Spain.

TERC
Specificity
100 %
Genes
9 %
CTC1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CTC1
Specificity
100 %
Genes
9 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
25 %
CTC1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CTC1
Specificity
100 %
Genes
9 %
Cerebroretinal microangiopathy with calcifications and cysts (sequence analysis of CTC1).

By CGC Genetics in Portugal.

CTC1
Specificity
100 %
Genes
9 %
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via CTC1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CTC1
Specificity
100 %
Genes
9 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
9 %
Cerebral small vessel disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL4A2, CTC1, HTRA1, TREX1, COL4A1, NOTCH3, GLA
Specificity
15 %
Genes
9 %
Cerebral small vessel disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL4A2, CTC1, HTRA1, TREX1, COL4A1, NOTCH3, GLA
Specificity
15 %
Genes
9 %
Cerebral small vessel disease NGS panel.

By Connective Tissue Gene Tests in United States.

COL4A2, CTC1, HTRA1, TREX1, COL4A1, NOTCH3, GLA
Specificity
15 %
Genes
9 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
17 %
Coat plus syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CTC1
Specificity
100 %
Genes
9 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
17 %
Basal ganglia calcification Panel.

By CeGaT GmbH in Germany.

XPR1, PDGFB, PDGFRB, TBCE, ERCC8, SLC20A2, TREM2, CTC1, ADAR, IFIH1, ERCC6, GATA3, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, FOLR1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
9 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
9 %
Small vessel disease Panel.

By CeGaT GmbH in Germany.

CTC1, HTRA1, TREX1, COL4A1, NOTCH3, GLA
Specificity
17 %
Genes
9 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

TBCK, PLEKHG2, VPS11, DARS, AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, HEPACAM, EARS2, TREM2, CSF1R, CTC1, RNASET2, ADAR , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
9 %
CTC1 - Gene Sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

CTC1
Specificity
100 %
Genes
9 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
25 %
CTC1.

By Fulgent Genetics Fulgent Genetics in United States.

CTC1
Specificity
100 %
Genes
9 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
9 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
9 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

SNORD118, MRPL44, LYRM7, DARS, AIMP1, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RNF216, RARS, SERAC1, PYCR2, IBA57, HEPACAM, EARS2, CSF1R, SCO1, MARS2 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
9 %
Vitreoretinopathy Panel.

By Blueprint Genetics in Finland.

CAPN5, P3H2, ATOH7, VCAN, COL18A1, CTC1, KIF11, ZNF408, CTNNB1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
9 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
9 %
Cerebroretinal microangiopathy with calcifications and cysts.

By Bioarray in Spain.

CTC1
Specificity
100 %
Genes
9 %
Coats Plus Syndrome , Sequencing CTC1 Gene.

By Reference Laboratory Genetics in Spain.

CTC1
Specificity
100 %
Genes
9 %
ACTRT3.

By Fulgent Genetics Fulgent Genetics in United States.

ACTRT3
Specificity
100 %
Genes
9 %
TINF2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TINF2
Specificity
100 %
Genes
9 %
TINF2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

TINF2
Specificity
100 %
Genes
9 %
TINF2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

TINF2
Specificity
100 %
Genes
9 %
TINF2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TINF2
Specificity
100 %
Genes
9 %
TINF2 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TINF2
Specificity
100 %
Genes
9 %
TINF2 Exon 6 Sequencing.

By GeneDx in United States.

TINF2
Specificity
100 %
Genes
9 %
TINF2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TINF2
Specificity
100 %
Genes
9 %
Dyskeratosis congenita (sequence analysis of TINF2 gene).

By CGC Genetics in Portugal.

TINF2
Specificity
100 %
Genes
9 %
Dyskeratosis Congenita (DC) and Revesz Syndrome via TINF2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TINF2
Specificity
100 %
Genes
9 %
Revesz syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TINF2
Specificity
100 %
Genes
9 %
Dyskeratosis congenita: TINF2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TINF2
Specificity
100 %
Genes
9 %
TINF2.

By Fulgent Genetics Fulgent Genetics in United States.

TINF2
Specificity
100 %
Genes
9 %
Dyskeratosis congenita type 3.

By Bioarray in Spain.

TINF2
Specificity
100 %
Genes
9 %
Congenital Dyskeratosis, Sequencing TINF2 Gene.

By Reference Laboratory Genetics in Spain.

TINF2
Specificity
100 %
Genes
9 %
Inherited Neutropenia panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1, HAX1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
9 %
Inherited Neutropenia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, GATA2, TAZ, AP3B1, HAX1, SLC37A4
Specificity
5 %
Genes
9 %
USB1 (C16orf57) sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

USB1
Specificity
100 %
Genes
9 %
USB1 (C16orf57) Deletion/Duplication Analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

USB1
Specificity
100 %
Genes
9 %
USB1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

USB1
Specificity
100 %
Genes
9 %
Poikiloderma with neutropenia, Clericuzio type.

By Human Genetics University Hospital Bern in Switzerland.

USB1
Specificity
100 %
Genes
9 %
Hereditary neutropenia (NGS panel for 22 genes).

By CGC Genetics in Portugal.

JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
9 %
Severe Congenital Neutropenia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMARCD2, WDR1, DNAJC21, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
9 %
Poikiloderma with neutropenia.

By Centogene AG - the Rare Disease Company in Germany.

USB1
Specificity
100 %
Genes
9 %
USB1.

By Fulgent Genetics Fulgent Genetics in United States.

USB1
Specificity
100 %
Genes
9 %
Severe Congenital Neutropenia Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

CXCR2, JAGN1, CXCR4, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, VPS13B, WAS, SBDS, GATA2, NRAS, KRAS, TCIRG1, TAZ , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
9 %
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1, HAX1, SLC37A4
Specificity
5 %
Genes
9 %
NOLA3 (NOP10) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NOP10
Specificity
100 %
Genes
9 %
NOLA3 (NOP10) Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NOP10
Specificity
100 %
Genes
9 %
Dyskeratosis congenita 1 AR (sequence analysis of NOP10 gene).

By CGC Genetics in Portugal.

NOP10
Specificity
100 %
Genes
9 %
Dyskeratosis Congenita (DC) via NOP10 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NOP10
Specificity
100 %
Genes
9 %
Dyskeratosis congenita, AR type 1.

By Centogene AG - the Rare Disease Company in Germany.

NOP10
Specificity
100 %
Genes
9 %
NOP10.

By Fulgent Genetics Fulgent Genetics in United States.

NOP10
Specificity
100 %
Genes
9 %
DYSKERATOSIS CONGENITA (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

NOP10, NHP2, WRAP53, RTEL1
Specificity
100 %
Genes
34 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
9 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
9 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DMD, DHCR7, BLM, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
9 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
9 %
RTEL1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

RTEL1
Specificity
100 %
Genes
9 %
RTEL1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

RTEL1
Specificity
100 %
Genes
9 %
Dyskeratosis congenita 5 AR (sequence analysis of RTEL1 gene).

By CGC Genetics in Portugal.

RTEL1
Specificity
100 %
Genes
9 %
Antibody deficiencies Panel.

By CeGaT GmbH in Germany.

TNFSF12, IGKC, TCF3, IL21, IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, MS4A1, TNFRSF13C, ICOS, CD81, CR2, CD19, PIK3R1, NFKB2, LRBA, CD40LG , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
17 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

NFAT5, ADAM17, CD3G, IL21, ITGB2, PLCG2, IL10, IL2RA, IL10RB, ICOS, PIK3R1, TTC7A, NLRC4, IL10RA, CTLA4, LRBA, PIK3CD, LIG4, G6PC3, STXBP2 , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
17 %
RTEL1.

By Fulgent Genetics Fulgent Genetics in United States.

RTEL1
Specificity
100 %
Genes
9 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G , (...)

View the complete list with 59 more genes
Specificity
3 %
Genes
17 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
9 %
NOLA2 (NHP2) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NHP2
Specificity
100 %
Genes
9 %
NOLA2 (NHP2) Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NHP2
Specificity
100 %
Genes
9 %
Dyskeratosis congenita 2 AR(sequence analysis of NHP2 gene).

By CGC Genetics in Portugal.

NHP2
Specificity
100 %
Genes
9 %
Dyskeratosis Congenita (DC) via NHP2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NHP2
Specificity
100 %
Genes
9 %
Dyskeratosis congenita, AR type 2.

By Centogene AG - the Rare Disease Company in Germany.

NHP2
Specificity
100 %
Genes
9 %
NHP2.

By Fulgent Genetics Fulgent Genetics in United States.

NHP2
Specificity
100 %
Genes
9 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, WDR13, FAAH2, EIF2S3, LAS1L, GSPT2, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
9 %
X-Linked Intellectual Disabilities Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
9 %
X-linked Intellectual Disabilities Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
9 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
9 %
DKC1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

DKC1
Specificity
100 %
Genes
9 %
DKC1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

DKC1
Specificity
100 %
Genes
9 %
DKC1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DKC1
Specificity
100 %
Genes
9 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
9 %
Dyskeratosis Congenita, X-linked (Zinsser-Cole-Engman Syndrome, sequence analysis of DKC1 gene).

By CGC Genetics in Portugal.

DKC1
Specificity
100 %
Genes
9 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

KIF4A, MID2, PGK1, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
9 %
Dyskeratosis Congenita (DC) and Hoyeraal-Hreidarsson Syndrome via DKC1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DKC1
Specificity
100 %
Genes
9 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

USP27X, SYTL5, KLHL15, MAP7D3, SLC7A3, MAGEA11, RLIM, DRP2, MSL3, NONO, H2BFWT, ARSF, RNF113A, HMGB3, SSR4, DDX3X, POLA1, KCNE5, BCAP31, KIF4A , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
9 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
9 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
9 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

NXF5, FAM126A, ZNF674, PGK1, CTDP1, GAN, KDM6A, THOC2, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2 , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
9 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
9 %
Hoyeraal-Hreidarsson syndrome.

By Centogene AG - the Rare Disease Company in Germany.

DKC1
Specificity
100 %
Genes
9 %
Dyskeratosis congenita, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

DKC1
Specificity
100 %
Genes
9 %
Dyskeratosis Congenita, X-Linked: DKC1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DKC1
Specificity
100 %
Genes
9 %
Dyskeratosis Congenita, X-Linked: DKC1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DKC1
Specificity
100 %
Genes
9 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PGK1, CNKSR2, CDK16, CCDC22, FRMPD4, KLF8, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
9 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF674, PGK1, CNKSR2, CCDC22, FRMPD4, ZCCHC12, WDR13, FAAH2, GSPT2, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
9 %
DKC1.

By Fulgent Genetics Fulgent Genetics in United States.

DKC1
Specificity
100 %
Genes
9 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
9 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

ELK1, NXF5, DDX3X, ZNF674, PGK1, CLCN4, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, TAF1, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
9 %
Dyskeratosis congenita.

By Bioarray in Spain.

DKC1
Specificity
100 %
Genes
9 %
Dyskeratosis congenita.

By Bioarray in Spain.

DKC1
Specificity
100 %
Genes
9 %
DYSKERATOSIS CONGENITA (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

DKC1
Specificity
100 %
Genes
9 %
X-Linked Congenital Dyskeratosis, Sequencing DKC1 Gene.

By Reference Laboratory Genetics in Spain.

DKC1
Specificity
100 %
Genes
9 %
Dyskeratosis congenita, autosomal recessive type 6.

By Centogene AG - the Rare Disease Company in Germany.

PARN
Specificity
100 %
Genes
9 %
Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4.

By Centogene AG - the Rare Disease Company in Germany.

PARN
Specificity
100 %
Genes
9 %
PARN.

By Fulgent Genetics Fulgent Genetics in United States.

PARN
Specificity
100 %
Genes
9 %
WRAP53 (WDR79, TCAB1) sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

WRAP53
Specificity
100 %
Genes
9 %
WRAP53 (WDR79, TCAB1) Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

WRAP53
Specificity
100 %
Genes
9 %
WRAP53 gene sequence.

By Ambry Genetics in United States.

WRAP53
Specificity
100 %
Genes
9 %
Dyskeratosis Congenita (DC) via WRAP53 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WRAP53
Specificity
100 %
Genes
9 %
WRAP53.

By Fulgent Genetics Fulgent Genetics in United States.

WRAP53
Specificity
100 %
Genes
9 %

Alternate names

Dyskeratosis Congenita, Autosomal Dominant 1; Dkca1 Is also known as dyskeratosis congenita, scoggins type;dc; dkc; zinsser-engman-cole syndrome.


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