ATP7B gene related symptoms and diseases

All the information presented here about the ATP7B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATP7B gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Leukoencephalopathy Very Common - Between 80% and 100% cases
Pathologic fracture Very Common - Between 80% and 100% cases
Global brain atrophy Very Common - Between 80% and 100% cases
Oral-pharyngeal dysphagia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATP7B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Personality changes
  • Abnormality of mitochondrial metabolism
  • Hypercalciuria
  • Back pain
  • Abnormality of the hand
  • Schizophrenia
  • Drooling
  • Leukopenia

And 94 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ATP7B gene

Here you will find a list of rare diseases related to the ATP7B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WILSON DISEASE


Alternate names

WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd

Description

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Most common symptoms of WILSON DISEASE

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


More info about WILSON DISEASE

SOURCES: MESH OMIM ORPHANET


Potential gene panels for ATP7B gene

ATP7B Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP7B gene.

More info about this panel

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel

Wilson's disease Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the ATP7B gene.

More info about this panel

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Movement Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX

More info about this panel

Wilson's Disease Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet

This panel specifically test the ATP7B gene.

More info about this panel

Wilsons disease Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B 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 ATP7B gene.

More info about this panel

Liver Diseases Deletion/duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2

More info about this panel

ATP7B 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 ATP7B gene.

More info about this panel

Liver Diseases 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 Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1

More info about this panel

ATP7B sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the ATP7B gene.

More info about this panel

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

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

Wilson Disease Panel

New Zealand.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease (ATP7B) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B. Sequencing of the exons 6, 8, 13, 14, 15, 16, 17 and 20 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease (deletion/duplication analysis of ATP7B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease (sequence analysis of ATP7B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP7B gene.

More info about this panel

Dystonia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B

More info about this panel

Wilson Disease Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease / Hepatolenticular Degeneration via ATP7B Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ATP7B gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Wilson disease Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ATP7B gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Wilson Disease Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease Panel

India.

By GeneTech ATS GeneTech Private Limited

This panel specifically test the ATP7B gene.

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

More info about this panel

Wilson disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP7B gene.

More info about this panel

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

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

ATP7B full gene sequencing Panel

United States.

By Michigan Medical Genetics Laboratories University of Michigan

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the ATP7B gene.

More info about this panel

Hereditary Degenerative Syndromes Panel Panel

Germany.

By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

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 panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

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 panel

Dystonia All Panel Panel

Germany.

By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2

More info about this panel

Single gene testing ATP7B Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease (ATP7B) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the ATP7B gene.

More info about this panel

Dystonia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB

More info about this panel

NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2) Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2) that also includes the following genes: SLC11A2 TF TMPRSS6 ACVR1 CP STEAP3 ATP4A ATP7B

More info about this panel

Wilson disease, ATP7B sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B mutation screen (Wilson disease) Panel

Singapore.

By Molecular Diagnosis Centre National University Hospital

This panel specifically test the ATP7B gene.

More info about this panel

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Wilson disease Panel

Slovakia.

By MedGene

This panel specifically test the ATP7B gene.

More info about this panel

Invitae Wilson Disease Test Panel

United States.

By Invitae

This panel specifically test the ATP7B gene.

More info about this panel

Invitae Copper Metabolism Disorders Panel Panel

United States.

By Invitae Invitae Copper Metabolism Disorders Panel that also includes the following genes: CP AP1S1 ATP7A ATP7B SLC33A1

More info about this panel

Invitae Treatable Neurometabolic Disorders Panel Panel

United States.

By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2

More info about this panel

Wilson syndrome: ATP7B gene Deletions-Duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease: ATP7B gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease: ATP7B gene screening (exons 2, 14, 18) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease: ATP7B Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ATP7B gene.

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Wilson Disease (ATP7B), Full Gene Analysis Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic

This panel specifically test the ATP7B gene.

More info about this panel

Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS

More info about this panel

Wilson Disease (ATP7B) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the ATP7B gene.

More info about this panel

Inheritest NGS, Comprehensive Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

ATP7B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP7B gene.

More info about this panel

WILSON-Complete Panel

Hungary.

By PentaCoreLab WILSON-Complete that also includes the following genes: ATP7B PRNP

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Metabolic Liver Failure Panel Panel

Finland.

By Blueprint Genetics Metabolic Liver Failure Panel that also includes the following genes: SMPD1 NPC2 FAH GALE GALK1 GALT ALDOB LIPA MPI NPC1

More info about this panel

Wilson disease Panel

Spain.

By Bioarray

This panel specifically test the ATP7B gene.

More info about this panel

ATP7B Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the ATP7B gene.

More info about this panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

More info about this panel

WILSON DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ATP7B gene.

More info about this panel

PARKINSON NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PARKINSON NGS PANEL that also includes the following genes: SLC6A3 SMPD1 SNCA SYNJ1 UCHL1 VPS35 FBXO7 HTRA2 PINK1 DNAJC6

More info about this panel

Wilson Disease, Sequencing ATP7B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease, Sequencing Exons (2,14,18) ATP7B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP7B gene.

More info about this panel

Wilson Disease , Deletions-Duplications (MLPA) ATP7B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the ATP7B gene.

More info about this panel

Wilson disease Panel

China.

By Joingenome Diagnostics

This panel specifically test the ATP7B gene.

More info about this panel

planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

More info about this panel

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

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Wilson disease Panel

India.

By Genetic Services Unit National Institute of Biomedical Genomics

This panel specifically test the ATP7B gene.

More info about this panel


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