DKC1 gene related symptoms and diseases
All the information presented here about the DKC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DKC1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Myelodysplasia | Very Common - Between 80% and 100% cases |
| Nail dystrophy | Very Common - Between 80% and 100% cases |
| Carious teeth | Very Common - Between 80% and 100% cases |
| Premature graying of hair | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DKC1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of skin pigmentation
- Cirrhosis
- Pulmonary fibrosis
- Premature loss of teeth
- Epiphora
- Urethral stenosis
- Abnormal intestine morphology
- Dermal atrophy
And 141 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DKC1 gene
Here you will find a list of rare diseases related to the DKC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DYSKERATOSIS CONGENITA
Alternate names
DYSKERATOSIS CONGENITA Is also known as dkc, dc, dyskeratosis congenita, scoggins type, zinsser-engman-cole syndrome
Description
Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
Most common symptoms of DYSKERATOSIS CONGENITA
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
- Scoliosis
More info about DYSKERATOSIS CONGENITA
HOYERAAL-HREIDARSSON SYNDROME
Alternate names
HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome, zinsser-cole-engman syndrome
Description
Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
Most common symptoms of HOYERAAL-HREIDARSSON SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about HOYERAAL-HREIDARSSON SYNDROME
Search interest in DKC1
Potential gene panels for DKC1 gene
NGS XLID Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
Comprehensive Pulmonary Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Hermansky-Pudlak and Pulmonary Fibrosis Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hermansky-Pudlak and Pulmonary Fibrosis Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT TINF2 NKX2-1 HPS3
More info about this panel United States.
Diffuse Lung Disease NGS Panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Diffuse Lung Disease NGS Panel that also includes the following genes: SFTPA2 SFTPB SFTPC SLC7A7 TERC TERT TINF2 NKX2-1 HPS4 CSF2RA
More info about this panel United States.
Telomere Shortening Disorders Spectrum NGS Panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Telomere Shortening Disorders Spectrum NGS Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 WRAP53 CTC1 DKC1
More info about this panel United States.
Idiopathic Pulmonary Fibrosis NGS Panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Idiopathic Pulmonary Fibrosis NGS Panel that also includes the following genes: SFTPA2 SFTPC TERC TERT TINF2 NKX2-1 HPS4 DKC1 ABCA3 HPS1
More info about this panel United States.
Bone Marrow Failure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Bone Marrow Failure that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7
More info about this panel United States.
X-Linked Intellectual Disabilities Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-linked Intellectual Disabilities Sequencing Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24
More info about this panel United States.
Dyskeratosis Congenita panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Dyskeratosis Congenita panel by next-generation sequencing (NGS) that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 DKC1
More info about this panel United States.
DKC1 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the DKC1 gene.
More info about this panel United States.
Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Dyskeratosis Congenita Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Dyskeratosis Congenita Deletion/Duplication Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 DKC1
More info about this panel United States.
DKC1 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the DKC1 gene.
More info about this panel United States.
Inherited Bone Marrow Failure Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 POT1 ACD NAF1 WRAP53
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
DCNext Panel
United States.
By Ambry Genetics DCNext that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 WRAP53 DKC1
More info about this panel United States.
DKC1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the DKC1 gene.
More info about this panel Spain.
CHOP Comprehensive Hereditary Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panel United States.
Neonatal Respiratory Distress Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Del/Dup Panel that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Neonatal Respiratory Distress Seq + Del/ Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Seq + Del/ Dup Panel that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Neonatal Respiratory Distress Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Seq Analysis that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Dyskeratosis Congenita, X-linked (Zinsser-Cole-Engman Syndrome, sequence analysis of DKC1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DKC1 gene.
More info about this panel Portugal.
Dyskeratosis congenita (NGS panel for 8 genes) Panel
Portugal.
By CGC Genetics Dyskeratosis congenita (NGS panel for 8 genes) that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 DKC1
More info about this panel Portugal.
Mental retardation, X-linked (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel Portugal.
Dyskeratosis Congenita (DC) and Hoyeraal-Hreidarsson Syndrome via DKC1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the DKC1 gene.
More info about this panel United States.
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 CTC1 DKC1 PARN
More info about this panel United States.
X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panel United States.
Interstitial Lung Disease Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2
More info about this panel United States.
Dyskeratosis congenita NGS panel Panel
United States.
By Connective Tissue Gene Tests Dyskeratosis congenita NGS panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1
More info about this panel United States.
Dyskeratosis congenita Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Dyskeratosis congenita Deletion / Duplication panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1
More info about this panel United States.
Dyskeratosis congenita Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Dyskeratosis congenita Comprehensive panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
X-Linked Mental Retardation Panel
Germany.
By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Hoyeraal-Hreidarsson syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DKC1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Dyskeratosis congenita, X-linked Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DKC1 gene.
More info about this panel Germany.
Comprehensive pulmonary disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panel Germany.
Disorders associated with malignancy Panel Panel
Germany.
By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA
More info about this panel Germany.
Dyskeratosis congenita Panel Panel
Germany.
By CeGaT GmbH Dyskeratosis congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1 DKC1
More info about this panel Germany.
Bone marrow failure syndromes Panel Panel
Germany.
By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2
More info about this panel Germany.
Antibody deficiencies Panel Panel
Germany.
By CeGaT GmbH Antibody deficiencies Panel that also includes the following genes: BTK TCF3 TCF4 CD40 TNFSF12 CD40LG UNG AICDA BLNK RTEL1
More info about this panel Germany.
Syndromes with immunodeficiency Panel Panel
Germany.
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
More info about this panel Germany.
NGS Panel for Dyskeratosis congenita Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Dyskeratosis congenita that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1
More info about this panel Spain.
Invitae Dyskeratosis Congenita Panel Panel
United States.
By Invitae Invitae Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 CTC1 DKC1
More info about this panel United States.
Invitae Bone Marrow Failure Syndromes Panel Panel
United States.
By Invitae Invitae Bone Marrow Failure Syndromes Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 RUNX1
More info about this panel United States.
Invitae Monogenic Inflammatory Bowel Disease Panel Panel
United States.
By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT
More info about this panel United States.
ONCOLOGY, PANEL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4
More info about this panel Spain.
Dyskeratosis Congenita, X-Linked: DKC1 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DKC1 gene.
More info about this panel United States.
Dyskeratosis Congenita, X-Linked: DKC1 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DKC1 gene.
More info about this panel United States.
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
Dyskeratosis Congenita NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Dyskeratosis Congenita NGS Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 WRAP53 CTC1 DKC1
More info about this panel United States.
XLID NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
DKC1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DKC1 gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Dyskeratosis Congenita Panel Panel
Finland.
By Blueprint Genetics Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 DCLRE1B WRAP53 USB1 CTC1
More info about this panel Finland.
Hereditary Leukemia Panel Panel
Finland.
By Blueprint Genetics Hereditary Leukemia Panel that also includes the following genes: RIT1 RUNX1 BLM BRAF BRCA1 BRCA2 SOS1 SRP72 EPCAM TERC
More info about this panel Finland.
X-linked Intellectual Disability Panel Panel
Finland.
By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panel Finland.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Hermansky-Pudlak Syndrome Panel Panel
Finland.
By Blueprint Genetics Hermansky-Pudlak Syndrome Panel that also includes the following genes: SFTPB SFTPC TERC TERT TINF2 TYR TYRP1 HPS3 HPS4 SLC45A2
More info about this panel Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Comprehensive Pulmonology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panel Finland.
Interstitial Lung Disease Panel Panel
Finland.
By Blueprint Genetics Interstitial Lung Disease Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT
More info about this panel Finland.
Dyskeratosis congenita Panel
Spain.
By Bioarray
This panel specifically test the DKC1 gene.
More info about this panel Spain.
Dyskeratosis congenita Panel
Spain.
By Bioarray
This panel specifically test the DKC1 gene.
More info about this panel Spain.
Inherited Bone Marrow Failure Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
DYSKERATOSIS CONGENITA (X-LINKED) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the DKC1 gene.
More info about this panel Spain.
DYSKERATOSIS CONGENITA Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSKERATOSIS CONGENITA that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1 GRHL2
More info about this panel Spain.
X-Linked Congenital Dyskeratosis, Sequencing DKC1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the DKC1 gene.
More info about this panel Spain.
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel
Spain.
By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel Spain.
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel
Spain.
By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9
More info about this panel Spain.
Congenital Dyskeratosis , Panel Massive Sequencing (NGS) 8 genes Panel
Spain.
By Reference Laboratory Genetics Congenital Dyskeratosis , Panel Massive Sequencing (NGS) 8 genes that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 WRAP53 CTC1 DKC1
More info about this panel Spain.
Phosphorus Leukemia including Fanconi Anemia Genes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Leukemia including Fanconi Anemia Genes Panel that also includes the following genes: RUNX1 BLM BRCA2 EPCAM TERC TERT TINF2 TP53 XRCC2 CEBPA
More info about this panel United States.
Phosphorus Leukemia Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Leukemia Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TINF2 TP53 CEBPA DKC1 GATA2
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel Canada.
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