Dyskeratosis Congenita, X-linked; Dkcx

Description

Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).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, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Dyskeratosis Congenita, X-linked; Dkcx

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay
  • Strabismus
And another 98 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Dyskeratosis Congenita, X-linked; Dkcx Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ACD Sequencing.

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

ACD
Specificity
100 %
Genes
17 %
Tier 1: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

MSH2, PMS2, MSH6, MLH1, TP53, CHEK2, ACD, KLHDC8B, TERF2IP, POT1, NPAT
Specificity
10 %
Genes
17 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)

View the complete list with 41 more genes
Specificity
10 %
Genes
100 %
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel.

By Genetic Services Laboratory University of Chicago in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD, POT1, NAF1
Specificity
43 %
Genes
100 %
Hereditary Melanoma Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, TP53, MC1R, CDK4, CDKN2A, BAP1, POLE, ACD, POT1, WRN
Specificity
10 %
Genes
17 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)

View the complete list with 59 more genes
Specificity
8 %
Genes
100 %
Dyskeratosis congenita NGS panel.

By Connective Tissue Gene Tests in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD
Specificity
50 %
Genes
100 %
Dyskeratosis congenita Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD
Specificity
50 %
Genes
100 %
Dyskeratosis congenita Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD
Specificity
50 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
3 %
Genes
100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)

View the complete list with 17 more genes
Specificity
17 %
Genes
100 %
ACD.

By Fulgent Genetics Fulgent Genetics in United States.

ACD
Specificity
100 %
Genes
17 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
3 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
3 %
Genes
100 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
5 %
Genes
84 %
Inherited Bone Marrow Failure Panel.

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

BRCA2, RUNX1, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, GATA1, RPS26, RPS10, RPL11 , (...)

View the complete list with 38 more genes
Specificity
9 %
Genes
84 %
Comprehensive Pulmonary Panel.

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

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
6 %
Genes
84 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

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

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, RTEL1, DKC1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, PARN, CSF2RA, MUC5B, NKX2-1 , (...)

View the complete list with 5 more genes
Specificity
20 %
Genes
84 %
Interstitial Lung Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMPD1, HPS1, HPS4, STAT3, CFTR, TINF2, TSC2, TSC1, FLCN, SLC7A7, RTEL1, NF1, DKC1, TERC, TERT, PARN, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 4 more genes
Specificity
21 %
Genes
84 %
Dyskeratosis congenita, autosomal recessive type 6.

By Centogene AG - the Rare Disease Company in Germany.

PARN
Specificity
100 %
Genes
17 %
Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4.

By Centogene AG - the Rare Disease Company in Germany.

PARN
Specificity
100 %
Genes
17 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

FBLN5, RET, ELN, DTNBP1, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B , (...)

View the complete list with 46 more genes
Specificity
8 %
Genes
84 %
PARN.

By Fulgent Genetics Fulgent Genetics in United States.

PARN
Specificity
100 %
Genes
17 %
Dyskeratosis Congenita Panel.

By Blueprint Genetics in Finland.

AK2, TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, DCLRE1B
Specificity
39 %
Genes
84 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)

View the complete list with 59 more genes
Specificity
3 %
Genes
34 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

FBLN5, RET, ELN, SMPD1, MECP2, HPS1, HPS4, CCDC39, CHAT, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, CHRNE, SERPINA1, SLC7A7 , (...)

View the complete list with 46 more genes
Specificity
8 %
Genes
84 %
Interstitial Lung Disease Panel.

By Blueprint Genetics in Finland.

SMPD1, HPS1, HPS4, STAT3, TINF2, TSC2, TSC1, SLC7A7, RTEL1, NF1, DKC1, TERC, ELMOD2, TERT, PARN, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 5 more genes
Specificity
20 %
Genes
84 %
NGS XLID Panel.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, ARX , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
17 %
Diffuse Lung Disease NGS Panel.

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

HPS1, HPS4, AP3B1, FOXF1, TINF2, SLC7A7, DKC1, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
19 %
Genes
50 %
Telomere Shortening Disorders Spectrum NGS Panel.

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

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
38 %
Genes
50 %
Idiopathic Pulmonary Fibrosis NGS Panel.

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

HPS1, HPS4, AP3B1, TINF2, DKC1, TERC, TERT, NKX2-1, ABCA3, SFTPC, SFTPA2
Specificity
28 %
Genes
50 %
Bone Marrow Failure.

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

BRCA2, RPL35A, FANCC, RPS19, TINF2, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, MPL, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
50 %
X-Linked Intellectual Disabilities Deletion/Duplication.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
17 %
X-linked Intellectual Disabilities Sequencing.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
17 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
17 %
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.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1 , (...)

View the complete list with 39 more genes
Specificity
7 %
Genes
67 %
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.

TINF2, RTEL1, DKC1, TERC, TERT, WRAP53, NHP2, NOP10
Specificity
50 %
Genes
67 %
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
17 %
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.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 35 more genes
Specificity
8 %
Genes
67 %
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.

TINF2, RTEL1, DKC1, TERC, TERT, WRAP53, NHP2, NOP10
Specificity
50 %
Genes
67 %
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
17 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
34 %
DCNext.

By Ambry Genetics in United States.

TINF2, DKC1, TERC, TERT, WRAP53, NHP2, NOP10
Specificity
43 %
Genes
50 %
DKC1. Complete sequencing.

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

DKC1
Specificity
100 %
Genes
17 %
CHOP Comprehensive Hereditary Cancer Panel.

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

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
17 %
Neonatal Respiratory Distress Del/Dup Panel.

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

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
13 %
Genes
34 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel.

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

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
13 %
Genes
34 %
Neonatal Respiratory Distress Seq Analysis.

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

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
13 %
Genes
34 %
Comprehensive Pulmonary-Vascular Seq Analysis.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 45 more genes
Specificity
4 %
Genes
34 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
4 %
Genes
34 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
4 %
Genes
34 %
Dyskeratosis Congenita, X-linked (Zinsser-Cole-Engman Syndrome, sequence analysis of DKC1 gene).

By CGC Genetics in Portugal.

DKC1
Specificity
100 %
Genes
17 %
Dyskeratosis congenita (NGS panel for 8 genes).

By CGC Genetics in Portugal.

TINF2, RTEL1, DKC1, TERC, TERT, WRAP53, NHP2, NOP10
Specificity
50 %
Genes
67 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
17 %
Dyskeratosis Congenita (DC) and Hoyeraal-Hreidarsson Syndrome via DKC1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DKC1
Specificity
100 %
Genes
17 %
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
38 %
Genes
50 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
17 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
17 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
17 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
17 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, SLC6A8 , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
17 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
17 %
Hoyeraal-Hreidarsson syndrome.

By Centogene AG - the Rare Disease Company in Germany.

DKC1
Specificity
100 %
Genes
17 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
17 %
Dyskeratosis congenita, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

DKC1
Specificity
100 %
Genes
17 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, SDHB, BLM, TINF2, TSC2, TSC1, ATM, PTCH1, NF2, STK11, SDHD, FLCN, PRKAR1A, RTEL1, NF1 , (...)

View the complete list with 25 more genes
Specificity
9 %
Genes
67 %
Dyskeratosis congenita Panel.

By CeGaT GmbH in Germany.

TINF2, RTEL1, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10, USB1
Specificity
40 %
Genes
67 %
Bone marrow failure syndromes Panel.

By CeGaT GmbH in Germany.

BRCA2, FANCC, TINF2, MRE11, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, RTEL1, WAS, FANCB, DKC1, LYST, TERC, TERT, CSF2RA, CTC1, WRAP53 , (...)

View the complete list with 17 more genes
Specificity
11 %
Genes
67 %
Antibody deficiencies Panel.

By CeGaT GmbH in Germany.

UNG, RTEL1, BTK, TCF4, DKC1, TNFRSF13B, AICDA, CD40, CD40LG, LRBA, NFKB2, PIK3R1, CD19, CR2, CD81, ICOS, TNFRSF13C, MS4A1, LRRC8A, BLNK , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
34 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)

View the complete list with 18 more genes
Specificity
8 %
Genes
50 %
Invitae Dyskeratosis Congenita Panel.

By Invitae in United States.

TINF2, DKC1, TERC, TERT, CTC1, NHP2, NOP10
Specificity
43 %
Genes
50 %
Invitae Bone Marrow Failure Syndromes Panel.

By Invitae in United States.

BRCA2, RUNX1, RPL35A, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, WAS, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 19 more genes
Specificity
8 %
Genes
50 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
34 %
ONCOLOGY, PANEL.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 60 more genes
Specificity
3 %
Genes
34 %
Dyskeratosis Congenita, X-Linked: DKC1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DKC1
Specificity
100 %
Genes
17 %
Dyskeratosis Congenita, X-Linked: DKC1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DKC1
Specificity
100 %
Genes
17 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
17 %
Dyskeratosis Congenita NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
38 %
Genes
50 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
17 %
DKC1.

By Fulgent Genetics Fulgent Genetics in United States.

DKC1
Specificity
100 %
Genes
17 %
X-chromosome High Resolution microarray analysis.

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

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
17 %
Hereditary Leukemia Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ANKRD26, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, TINF2, RIT1 , (...)

View the complete list with 19 more genes
Specificity
8 %
Genes
50 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
17 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
3 %
Genes
50 %
Hermansky-Pudlak Syndrome Panel.

By Blueprint Genetics in Finland.

TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, DKC1, BLOC1S6, LYST, TERC, TERT, ABCA3 , (...)

View the complete list with 3 more genes
Specificity
14 %
Genes
50 %
Dyskeratosis congenita.

By Bioarray in Spain.

DKC1
Specificity
100 %
Genes
17 %
Dyskeratosis congenita.

By Bioarray in Spain.

DKC1
Specificity
100 %
Genes
17 %
DYSKERATOSIS CONGENITA (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

DKC1
Specificity
100 %
Genes
17 %
X-Linked Congenital Dyskeratosis, Sequencing DKC1 Gene.

By Reference Laboratory Genetics in Spain.

DKC1
Specificity
100 %
Genes
17 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 38 more genes
Specificity
6 %
Genes
50 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.

By Reference Laboratory Genetics in Spain.

TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG , (...)

View the complete list with 25 more genes
Specificity
7 %
Genes
50 %
Congenital Dyskeratosis , Panel Massive Sequencing (NGS) 8 genes.

By Reference Laboratory Genetics in Spain.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
38 %
Genes
50 %
Phosphorus Leukemia including Fanconi Anemia Genes Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, FANCC, BLM, HRAS, TINF2, ATM, NBN, PALB2, BRIP1, GATA2, CEBPA, RAD51C, NF1 , (...)

View the complete list with 15 more genes
Specificity
9 %
Genes
50 %
Phosphorus Leukemia Panel.

By Phosphorus Diagnostics LLC in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, TINF2, ATM, NBN, GATA2, CEBPA, NF1, DKC1, TERC, TERT
Specificity
17 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
34 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
3 %
Genes
67 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
17 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
17 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
17 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
17 %
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
17 %
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
17 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, SDHAF2, RET, SDHC, FH, SDHB, ANKRD26, TMEM127 , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
34 %
Hereditary Leukemia and Breast Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, PTEN, RUNX1, TP53, ANKRD26, BLM, PTPN11, CBL, ATM, NBN, PALB2, CDH1, CHEK2, GATA2, PAX5 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
34 %
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL).

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, TP53, ANKRD26, GATA2, PAX5, CEBPA, RTEL1, TERC, TERT, SRP72, IKZF1, ETV6, SAMD9, SAMD9L, DDX41
Specificity
14 %
Genes
34 %
Dyskeratosis congenita 5 AR (sequence analysis of RTEL1 gene).

By CGC Genetics in Portugal.

RTEL1
Specificity
100 %
Genes
17 %
RTEL1.

By Fulgent Genetics Fulgent Genetics in United States.

RTEL1
Specificity
100 %
Genes
17 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
17 %
DYSKERATOSIS CONGENITA (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

RTEL1, WRAP53, NHP2, NOP10
Specificity
25 %
Genes
17 %
DYSKERATOSIS CONGENITA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

TINF2, RTEL1, TERT
Specificity
100 %
Genes
50 %
TINF2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TINF2
Specificity
100 %
Genes
17 %
TINF2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

TINF2
Specificity
100 %
Genes
17 %
TINF2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

TINF2
Specificity
100 %
Genes
17 %
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
17 %
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
17 %
TINF2 Exon 6 Sequencing.

By GeneDx in United States.

TINF2
Specificity
100 %
Genes
17 %
TINF2. Complete sequencing.

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

TINF2
Specificity
100 %
Genes
17 %
Dyskeratosis congenita (sequence analysis of TINF2 gene).

By CGC Genetics in Portugal.

TINF2
Specificity
100 %
Genes
17 %
Dyskeratosis Congenita (DC) and Revesz Syndrome via TINF2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TINF2
Specificity
100 %
Genes
17 %
Revesz syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TINF2
Specificity
100 %
Genes
17 %
Dyskeratosis congenita: TINF2 gene sequence analysis.

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

TINF2
Specificity
100 %
Genes
17 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
17 %
TINF2.

By Fulgent Genetics Fulgent Genetics in United States.

TINF2
Specificity
100 %
Genes
17 %
Dyskeratosis congenita type 3.

By Bioarray in Spain.

TINF2
Specificity
100 %
Genes
17 %
Congenital Dyskeratosis, Sequencing TINF2 Gene.

By Reference Laboratory Genetics in Spain.

TINF2
Specificity
100 %
Genes
17 %
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
17 %
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
17 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
17 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
17 %
Basic Fibrosis Panel (12 Genes).

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

TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2, SFTPA1
Specificity
9 %
Genes
17 %
PulmoGene Panel (64 Genes).

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

FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...)

View the complete list with 44 more genes
Specificity
2 %
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.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
17 %
TERT/TERC gene sequence and deletion/duplication.

By Ambry Genetics in United States.

TERC, TERT
Specificity
50 %
Genes
17 %
TERT. Complete sequencing.

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

TERT
Specificity
100 %
Genes
17 %
TERT. Complete sequencing.

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

TERT
Specificity
100 %
Genes
17 %
Hereditary Melanoma Panel.

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

BRCA1, BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, TERT, BAP1, WRN
Specificity
10 %
Genes
17 %
Dyskeratosis congenita (sequence analysis of TERT gene).

By CGC Genetics in Portugal.

TERT
Specificity
100 %
Genes
17 %
Pulmonary fibrosis and/or bone marrow failure (sequence analysis of TERT gene).

By CGC Genetics in Portugal.

TERT
Specificity
100 %
Genes
17 %
Pulmonary fibrosis and/or bone marrow failure (sequence analysis of TERT gene).

By CGC Genetics in Portugal.

TERT
Specificity
100 %
Genes
17 %
Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, TP53, ANKRD26, GATA2, CEBPA, TERC, TERT, SRP72, ETV6, SAMD9L, DDX41
Specificity
10 %
Genes
17 %
Dyskeratosis Congenita (DC) via TERT Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TERT
Specificity
100 %
Genes
17 %
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TERC, ELMOD2, TERT, SFTPD, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
10 %
Genes
17 %
Aplastic anemia.

By Centogene AG - the Rare Disease Company in Germany.

TERT
Specificity
100 %
Genes
17 %
Dyskeratosis congenita, AD type 1.

By Centogene AG - the Rare Disease Company in Germany.

TERT
Specificity
100 %
Genes
17 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
17 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
17 %
Invitae Pediatric Hematologic Malignancies Panel.

By Invitae in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, ATM, NBN, GATA2, CEBPA, NF1, TERC, TERT
Specificity
7 %
Genes
17 %
Invitae Myelodysplastic Syndrome/Leukemia Panel.

By Invitae in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, ATM, NBN, GATA2, CEBPA, NF1, TERC, TERT
Specificity
7 %
Genes
17 %
Pulmonary fibrosis, idiopathic: TERT gene sequence analysis.

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

TERT
Specificity
100 %
Genes
17 %
Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency.

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

TERC, TERT, SFTPD, CSF2RA, CSF2RB, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA2, DMBT1, FOXA2, FOXA1
Specificity
8 %
Genes
17 %
Pulmonary Disease: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
17 %
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS4, HPS3, AP3B1, BLOC1S6, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA1
Specificity
6 %
Genes
17 %
Interstitial Lung Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TERT, CSF2RA, CSF2RB, ABCA3, SFTPC, SFTPB, NKX1-1
Specificity
15 %
Genes
17 %
Interstitial Lung Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TERT, CSF2RA, ABCA3, SFTPC, SFTPB
Specificity
20 %
Genes
17 %
Melanoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, PTEN, TP53, RB1, MC1R, TYR, CDK4, CDKN2A, ERCC3, MITF, TERT, WRN
Specificity
8 %
Genes
17 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
17 %
Lung Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, SCNN1A , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
17 %
TERT.

By Fulgent Genetics Fulgent Genetics in United States.

TERT
Specificity
100 %
Genes
17 %
Hematologic Malignancy Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, ATM, NBN, GATA2, CEBPA, NF1, TERC, TERT
Specificity
7 %
Genes
17 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
17 %
Onco microarray for MDS/AML.

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

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
17 %
Hemato-oncology chromosomal microarray.

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

BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
17 %
Dyskeratosis congenita type 1.

By Bioarray in Spain.

TERT
Specificity
100 %
Genes
17 %
Idiopathic pulmonary fibrosis type 1.

By Bioarray in Spain.

TERT
Specificity
100 %
Genes
17 %
Solid Tumor Gene Set.

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

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
17 %
Hematopoietic Disorders Gene Set.

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

RUNX1, TP53, IDH2, BCOR, BRAF, CREBBP, KRAS, NRAS, PTPN11, CBL, NSD1, ATM, GATA2, PAX5, CEBPA, MPL, NF1, SETBP1, GATA3, GATA1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
17 %
CNS Tumor Gene Set.

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

PTEN, TP53, WT1, RB1, SHH, IDH2, BRAF, KRAS, FGFR2, PTCH1, NF2, SUFU, CDKN2A, MET, NTRK1, NF1, FGFR1, SETD2, ATRX, MED12 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
17 %
Melanoma Gene Set.

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

PTEN, TP53, RB1, RET, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, CDKN2A, MET, NF1, FGFR1, KMT2D, MED12 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
17 %
Genitourinary Tumors Gene Set.

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

BRCA1, BRCA2, VHL, MLH1, PTEN, TP53, PPARG, FGFR3, AR, BRAF, CREBBP, HRAS, NRAS, FGFR2, TSC2, TSC1, ATM, PTCH1, CDKN2A, MET , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
17 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
17 %
Hereditary Cancer Comprehensive Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, RET, SDHC, SDHB, MEN1, ATM, MRE11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
17 %
NeoTYPE® Discovery Profile for Solid Tumors.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

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.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
17 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
17 %
IDIOPATHIC PULMONARY FIBROSIS.

By Laboratorio de Genetica Clinica SL in Spain.

TERT, SFTPA2
Specificity
50 %
Genes
17 %
Congenital Dyskeratosis , Sequencing TERT Gene.

By Reference Laboratory Genetics in Spain.

TERT
Specificity
100 %
Genes
17 %
Idiopathic Pulmonary Fibrosis , Sequencing TERT Gene.

By Reference Laboratory Genetics in Spain.

TERT
Specificity
100 %
Genes
17 %
Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, PTEN, TP53, RB1, MC1R, CDK4, CDKN2A, MITF, TERT, BAP1
Specificity
10 %
Genes
17 %
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

RUNX1, TP53, WT1, IDH2, KRAS, NSD1, GATA2, CEBPA, DNMT3A, TERC, TERT, KIT, ASXL1, FLT3, NPM1, JAK2, IDH1, PICALM, CBFB, LPP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
17 %
Idiopathic Aplastic Anemia , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

NBN, SBDS, PRF1, TERC, TERT, IFNG
Specificity
17 %
Genes
17 %
Familial Pulmonary Fibrosis and Pulmonary Surfactant Metabolism Dysfunction , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

TERC, TERT, CSF2RA, CSF2RB, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
12 %
Genes
17 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
17 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
17 %

Alternate names

Dyskeratosis Congenita, X-linked; Dkcx Is also known as zinsser-cole-engman syndrome;progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome.



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