ERCC4 gene related symptoms and diseases
All the information presented here about the ERCC4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ERCC4 gene
Symptoms // Phenotype | % Cases |
---|---|
Microcephaly | Very Common - Between 80% and 100% cases |
Hearing impairment | Very Common - Between 80% and 100% cases |
Ataxia | Very Common - Between 80% and 100% cases |
Neoplasm | Very Common - Between 80% and 100% cases |
Short stature | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ERCC4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cutaneous photosensitivity
- Anemia
- Intellectual disability
- Renal insufficiency
- Bone marrow hypocellularity
- Neoplasm of the skin
- Dry skin
- Nystagmus
And 318 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ERCC4 gene
Here you will find a list of rare diseases related to the ERCC4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
XFE PROGEROID SYNDROME; XFEPS
Alternate names
XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome
Most common symptoms of XFE PROGEROID SYNDROME; XFEPS
- Hearing impairment
- Microcephaly
- Scoliosis
- Ataxia
- Neoplasm
XERODERMA PIGMENTOSUM
Alternate names
XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i, xp1, xp, group a, xp
Description
Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).
Most common symptoms of XERODERMA PIGMENTOSUM
- Intellectual disability
- Seizures
- Short stature
- Hearing impairment
- Microcephaly
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
Alternate names
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6, xp, group f, xeroderma pigmentosum vi
Description
Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).
Most common symptoms of XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Scoliosis
FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ
Description
Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by Bogliolo et al., 2013).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.
Most common symptoms of FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ
- Short stature
- Microcephaly
- Growth delay
- Neoplasm
- Low-set ears
SOURCES: OMIM
FANCONI ANEMIA
Alternate names
FANCONI ANEMIA Is also known as fanconi pancytopenia, fanconi anemia, fa
Description
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
Most common symptoms of FANCONI ANEMIA
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
COCKAYNE SYNDROME TYPE 1
Alternate names
COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i
Description
Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment.
Most common symptoms of COCKAYNE SYNDROME TYPE 1
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX
Alternate names
XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex
Description
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).
Most common symptoms of XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES: ORPHANET
Search interest in ERCC4
Potential gene panels for ERCC4 gene
Bone Marrow Failure Panel
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 panelBone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel
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 panelFanconi Anemia Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Fanconi Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA FANCB
More info about this panelBone Marrow Failure Syndromes Deletion/Duplication Panel Panel
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 panelFanconi Anemia Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Fanconi Anemia Deletion/Duplication Panel that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA FANCB
More info about this panelERCC4 (FANCQ) Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ERCC4 gene.
More info about this panelERCC4 (FANCQ) Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ERCC4 gene.
More info about this panelInherited Bone Marrow Failure Sequencing Panel Panel
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 panelFanconi Anemia Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Fanconi Anemia Sequencing Panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2 ERCC4
More info about this panelAtaxia Exome Panel Panel
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 panelHereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
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 panelCHOP Comprehensive Hereditary Cancer Panel Panel
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 panelBreast cancer (NGS panel for 18 genes) Panel
By CGC Genetics Breast cancer (NGS panel for 18 genes) that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 PALB2 ERCC4 MLH1 MSH2
More info about this panelOncoRisk Plus (NGS panel for 89 genes) Panel
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelFanconi Anemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Fanconi Anemia Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2
More info about this panelXeroderma Pigmentosum Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Xeroderma Pigmentosum Sequencing Panel with CNV Detection that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelCongenital Limb Malformation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panelXeroderma Pigmentosum via ERCC4 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ERCC4 gene.
More info about this panelXeroderma pigmentosum Comprehensive panel Panel
By Connective Tissue Gene Tests Xeroderma pigmentosum Comprehensive panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelXeroderma pigmentosum NGS panel Panel
By Connective Tissue Gene Tests Xeroderma pigmentosum NGS panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelXeroderma pigmentosum Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Xeroderma pigmentosum Deletion / Duplication panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelProgeroid syndromes and related disorders NGS panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelProgeroid syndromes and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelProgeroid syndromes and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelMental retardation - different panels Panel
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 panelHereditary Cancer Syndromes - panels Panel
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelFanconi anemia, complementation group Q Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ERCC4 gene.
More info about this panelFanconi anemia, complementation group Q Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ERCC4 gene.
More info about this panelXFE progeroid syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ERCC4 gene.
More info about this panelXeroderma pigmentosum, group F Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ERCC4 gene.
More info about this panelDisorders associated with malignancy Panel Panel
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 panelXeroderma pigmentosum Panel Panel
By CeGaT GmbH Xeroderma pigmentosum Panel that also includes the following genes: XPA XPC DDB2 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelSingle gene testing ERCC4 Panel
By CeGaT GmbH
This panel specifically test the ERCC4 gene.
More info about this panelProgeria syndromes Panel Panel
By CeGaT GmbH Progeria syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BANF1 GTF2H5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
More info about this panelCancer Predisposition Panel
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelFanconi Anemia Panel
By Asper Biogene Asper Biogene LLC Fanconi Anemia that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA
More info about this panelNGS Panel for Fanconi anemia Panel
By BLOODGENETICS BLOODGENETICS NGS Panel for Fanconi anemia that also includes the following genes: BRCA1 BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T RFWD3 FANCI
More info about this panelInvitae Bone Marrow Failure Syndromes Panel Panel
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 panelInvitae Fanconi Anemia Panel Panel
By Invitae Invitae Fanconi Anemia Panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA
More info about this panelONCOLOGY, PANEL Panel
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 panelFanconi Anemia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Fanconi Anemia NGS Panel that also includes the following genes: BRCA2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA FANCB
More info about this panelHereditary Cancer NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelXeroderma Pigmentosum NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Xeroderma Pigmentosum NGS Panel that also includes the following genes: XPA XPC DDB2 ERCC2 ERCC3 ERCC4 ERCC5
More info about this panelXeroderma Pigmentosum NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Xeroderma Pigmentosum NGS Panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelERCC4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ERCC4 gene.
More info about this panelComprehensive Cancer Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelFanconi Anemia Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Fanconi Anemia Comprehensive Panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI PALB2 ERCC4 FANCA
More info about this panelFanconi Anemia Panel Panel
By Blueprint Genetics Fanconi Anemia Panel that also includes the following genes: BLM BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI CXCR4 PALB2
More info about this panelProgeria and Progeroid Syndromes Panel Panel
By Blueprint Genetics Progeria and Progeroid Syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BSCL2 COL3A1 GORAB AGPAT2 ERCC2 ERCC4 ERCC5
More info about this panelComprehensive Hereditary Cancer Panel Panel
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 panelComprehensive Hematology Panel Panel
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 panelBone Marrow Failure Syndrome Panel Panel
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 panelHereditary Melanoma and Skin Cancer Panel Panel
By Blueprint Genetics Hereditary Melanoma and Skin Cancer Panel that also includes the following genes: BRCA1 BRCA2 TP53 WRN XPA XPC SUFU POT1 CDK4 CDKN2A
More info about this panelXeroderma Pigmentosum Panel Panel
By Blueprint Genetics Xeroderma Pigmentosum Panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelAnemia Panel Panel
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panelLimb Malformations Panel Panel
By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL
More info about this panelInherited Bone Marrow Failure Panel Panel
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 panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelXERODERMA PIGMENTOSUM Panel
By Laboratorio de Genetica Clinica SL XERODERMA PIGMENTOSUM that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelFANCONI ANEMIA: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FANCONI ANEMIA: NGS PANEL that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2 ERCC4
More info about this panelCOCKAYNE SYNDROME Panel
By Laboratorio de Genetica Clinica SL COCKAYNE SYNDROME that also includes the following genes: ERCC1 ERCC4 ERCC6 ERCC8
More info about this panelBREAST AND OVARIAN CANCER NGS PANEL Panel
By Laboratorio de Genetica Clinica SL BREAST AND OVARIAN CANCER NGS PANEL that also includes the following genes: BLM BRCA1 BRCA2 STK11 EPCAM TP53 WRN CDH1 PSMC3IP TNFRSF13B
More info about this panelXERODERMA PIGMENTOSUM NGS PANEL Panel
By Laboratorio de Genetica Clinica SL XERODERMA PIGMENTOSUM NGS PANEL that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelOncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelBone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel
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 panelXeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelPhosphorus Leukemia including Fanconi Anemia Genes Panel Panel
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 panelTempus xT assay Panel
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 panelTempus xO assay Panel
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 panelXeroderma Pigmentosum: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Xeroderma Pigmentosum: gene sequencing panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
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 panelFanconi Anemia: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Fanconi Anemia: gene sequencing panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T RFWD3 FANCI PALB2
More info about this panelEsophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Esophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel that also includes the following genes: BRCA2 SOX2 XRCC2 BRIP1 CHD7 FANCL FANCM SLX4 UBE2T RFWD3
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