ERCC2 gene related symptoms and diseases
All the information presented here about the ERCC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ERCC2 gene
Symptoms // Phenotype | % Cases |
---|---|
Microcephaly | Very Common - Between 80% and 100% cases |
Cutaneous photosensitivity | Very Common - Between 80% and 100% cases |
Cataract | Common - Between 50% and 80% cases |
Intellectual disability | Common - Between 50% and 80% cases |
Short stature | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ERCC2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Microphthalmia
Not very common - Between 30% and 50% cases
- Melanoma
- Hypogonadism
- Photophobia
- Telangiectasia
- Optic atrophy
- Dermal atrophy
- Global developmental delay
And 157 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ERCC2 gene
Here you will find a list of rare diseases related to the ERCC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
More info about XERODERMA PIGMENTOSUM
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
Alternate names
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD Is also known as xp8, formerly, xph, formerly, xp4 xeroderma pigmentosum viii, formerly, xpdc, xp, group d, xp, group h, formerly, xeroderma pigmentosum iv
Description
Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by Flejter et al., 1992).
Most common symptoms of XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
- Intellectual disability
- Microcephaly
- Ataxia
- Neoplasm
- Sensorineural hearing impairment
More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
COFS SYNDROME
Alternate names
COFS SYNDROME Is also known as cerebrooculofacioskeletal syndrome, pena-shokeir syndrome type 2
Description
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
Most common symptoms of COFS SYNDROME
- Seizures
- Short stature
- Microcephaly
- Micrognathia
- Sensorineural hearing impairment
More info about COFS SYNDROME
SOURCES: ORPHANET
TRICHOTHIODYSTROPHY
Description
Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).
More info about TRICHOTHIODYSTROPHY
SOURCES: ORPHANET
CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2
Most common symptoms of CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2
- Global developmental delay
- Hearing impairment
- Microcephaly
- Growth delay
- Micrognathia
More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1
Alternate names
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, trichothiodystrophy, photosensitive, trichothiodystrophy with congenital ichthyosis, ichthyosis, congenital, with trichothiodystrophy, pibids syndrome, tay syndrome
Description
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).
Most common symptoms of TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1
- Intellectual disability
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1
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
More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX
SOURCES: ORPHANET
Search interest in ERCC2
Potential gene panels for ERCC2 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panelERCC2 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ERCC2 gene.
More info about this panelERCC2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ERCC2 gene.
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 panelTrichothiodystrophy (sequence analysis of ERCC2 gene) Panel
By CGC Genetics
This panel specifically test the ERCC2 gene.
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 panelTrichothiodystrophy (NGS panel of 5 genes) Panel
By CGC Genetics Trichothiodystrophy (NGS panel of 5 genes) that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3
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 panelXeroderma Pigmentosum via ERCC2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ERCC2 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 panelCerebrooculofacioskeletal syndrome Comprehensive panel Panel
By Connective Tissue Gene Tests Cerebrooculofacioskeletal syndrome Comprehensive panel that also includes the following genes: ERCC1 ERCC2 ERCC5 ERCC6
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 panelTrichothiodystrophy NGS panel Panel
By Connective Tissue Gene Tests Trichothiodystrophy NGS panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2
More info about this panelTrichothiodystrophy Comprehensive panel Panel
By Connective Tissue Gene Tests Trichothiodystrophy Comprehensive panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2
More info about this panelCerebrooculofacioskeletal syndrome NGS panel Panel
By Connective Tissue Gene Tests Cerebrooculofacioskeletal syndrome NGS panel that also includes the following genes: ERCC1 ERCC2 ERCC5 ERCC6
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 panelTrichothiodystrophy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Trichothiodystrophy Deletion / Duplication panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2
More info about this panelCerebrooculofacioskeletal syndrome Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Cerebrooculofacioskeletal syndrome Deletion / Duplication panel that also includes the following genes: ERCC1 ERCC2 ERCC5 ERCC6
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 panelCustom solid tumor gene sequencing panel Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A
More info about this panelCataract Panel
By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B
More info about this panelEye Diseases - panels Panel
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
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 panelMicrophthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panelAllNeuro panel Panel
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 panelXeroderma pigmentosum, group D Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ERCC2 gene.
More info about this panelTrichothiodystrophy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ERCC2 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 panelIchthyoses and related disorders of cornification Panel Panel
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
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 panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panelSingle gene testing ERCC2 Panel
By CeGaT GmbH
This panel specifically test the ERCC2 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 panelTrichothiodystrofy: ERCC2 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ERCC2 gene.
More info about this panelTrichothiodystrophy: ERCC2 and ERCC3 genes sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Trichothiodystrophy: ERCC2 and ERCC3 genes sequence analysis that also includes the following genes: ERCC2 ERCC3
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 panelTrichothiodystrophy Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Trichothiodystrophy that also includes the following genes: RNF113A MPLKIP GTF2H5 NUPR1 ERCC2 ERCC3
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 panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelHearing Loss NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
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 panelERCC2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ERCC2 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 panelIchthyosis Panel Panel
By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1
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 panelEctodermal Dysplasia Panel Panel
By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2
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 panelMicrophthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN
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 panelCataract Panel Panel
By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1
More info about this panelTrichothiodystrophy Panel
By Bioarray
This panel specifically test the ERCC2 gene.
More info about this panelSolid Tumor Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panelGenitourinary Tumors Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1
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 panelOtogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
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 panelTRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME) Panel
By Laboratorio de Genetica Clinica SL TRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME) that also includes the following genes: GTF2H5 ERCC2 ERCC3
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 panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelTrichothiodystrophy , Sequencing ERCC2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ERCC2 gene.
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 panelTrichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3
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 panel152 Integrated Advantage NGS Solid Tumor Panel Panel
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
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
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