ATP7A gene related symptoms and diseases

All the information presented here about the ATP7A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATP7A gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Chronic diarrhea Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Osteoporosis Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ATP7A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Jaundice
  • Joint laxity
  • Narrow chest
  • Joint hyperflexibility
  • Abnormality of the face
  • Wormian bones
  • Hernia
  • Cutis laxa

And 197 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ATP7A gene

Here you will find a list of rare diseases related to the ATP7A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENKES DISEASE


Alternate names

MENKES DISEASE Is also known as steely hair syndrome, md, trichopoliodystrophy, mnk, menkes syndrome, steely hair disease, copper transport disease, mk, kinky hair syndrome, x-linked copper deficiency, kinky hair disease

Description

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

Most common symptoms of MENKES DISEASE

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MENKES DISEASE

SOURCES: OMIM ORPHANET MESH

OCCIPITAL HORN SYNDROME


Alternate names

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly, eds ix, ehlers-danlos syndrome type ix, ehlers-danlos syndrome type 9, x-linked cutis laxa, ehlers-danlos syndrome, occipital horn type, formerly, eds9, formerly, cutis laxa, x-linked, formerly

Description

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

Most common symptoms of OCCIPITAL HORN SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about OCCIPITAL HORN SYNDROME

SOURCES: MESH OMIM ORPHANET

X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3


Alternate names

X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3 Is also known as x-linked dhmn3, atp7a-related distal motor neuropathy, dsmax, x-linked distal hereditary motor neuropathy type 3, smax3, spinal muscular atrophy, distal, x-linked recessive, x-linked dsma3

Description

X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.

Most common symptoms of X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3

  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance
  • Hyporeflexia
  • Pes cavus


More info about X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3

SOURCES: ORPHANET MESH OMIM


Potential gene panels for ATP7A gene

ATP7A Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP7A gene.

More info about this panel

ATP7A Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP7A gene.

More info about this panel

ATP7A Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP7A gene.

More info about this panel

ATP7A Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP7A 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

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

NGS Connective Tissue Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2

More info about this panel

Copper Transport Disorders Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the ATP7A gene.

More info about this panel

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

Comprehensive Ehlers-Danlos Syndrome Panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Comprehensive Ehlers-Danlos Syndrome Panel that also includes the following genes: C1R C1S FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14

More info about this panel

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

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

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

ATP7A-Related Copper Transport Disorders Panel

Denmark.

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

This panel specifically test the ATP7A gene.

More info about this panel

ATP7A sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the ATP7A gene.

More info about this panel

ATP7A deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the ATP7A gene.

More info about this panel

ATP7A-Related Copper Transport Disorders (ATP7A), Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the ATP7A gene.

More info about this panel

ATP7A-Related Copper Transporter Disorders (ATP7A) Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the ATP7A gene.

More info about this panel

ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the ATP7A gene.

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

Connective Tissue Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S

More info about this panel

Ehlers-Danlos Syndrome Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Ehlers-Danlos Syndrome Panel that also includes the following genes: TNXB C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL1A2 COL3A1

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel

Menkes disease Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the ATP7A gene.

More info about this panel

ATP7A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP7A gene.

More info about this panel

ATP7A. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP7A gene.

More info about this panel

Menkes Disease (sequence analysis of ATP7A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP7A gene.

More info about this panel

Menkes disease (deletion/duplication analysis on ATP7A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP7A gene.

More info about this panel

Spinal muscular atrophy, X-linked (SMAX3, sequence analysis of ATP7A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP7A gene.

More info about this panel

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

Spinal muscular atrophy (NGS panel for 21 genes) Panel

Portugal.

By CGC Genetics Spinal muscular atrophy (NGS panel for 21 genes) that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 TRPV4

More info about this panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6

More info about this panel

Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SYT2 SLC5A7 BSCL2 BICD2 TRPV4 AARS LAS1L REEP1 DCTN1 FBXO38

More info about this panel

Menkes Disease and Hereditary Motor Neuropathy via ATP7A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ATP7A gene.

More info about this panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX

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

Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1

More info about this panel

Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1

More info about this panel

Ehlers-Danlos syndrome NGS panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel

Ehlers-Danlos syndrome Comprehensive panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1

More info about this panel

Distal hereditary motor neuropathy and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders NGS panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1

More info about this panel

Ehlers-Danlos syndrome NGS panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1

More info about this panel

Distal hereditary motor neuropathy and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders Comprehensive panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1

More info about this panel

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel

Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel

Menkes disease Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ATP7A gene.

More info about this panel

Menkes disease Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ATP7A gene.

More info about this panel

Menkes disease NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ATP7A gene.

More info about this panel

Connective tissue disorder Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Connective tissue disorder Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Connective tissue disorder NGS panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

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

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

ATP7A-Related Copper Transport Disorders Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ATP7A gene.

More info about this panel

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

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

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

Menkes disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP7A gene.

More info about this panel

Spinal muscular atrophy, distal, X-linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP7A gene.

More info about this panel

Cutis laxa panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cutis laxa panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

More info about this panel

Occipital horn syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP7A 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

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2

More info about this panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

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

Spinal Muscular Atrophy Panel Panel

Germany.

By CeGaT GmbH Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3

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

Spinal Muscular Atrophy (SMA) Panel Panel

Germany.

By CeGaT GmbH Spinal Muscular Atrophy (SMA) Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3

More info about this panel

Single gene testing ATP7A Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATP7A gene.

More info about this panel

Menkes Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the ATP7A gene.

More info about this panel

Ehlers-Danlos Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2

More info about this panel

ATP7A mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the ATP7A gene.

More info about this panel

Cutis laxa gene panel Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital Cutis laxa gene panel that also includes the following genes: TALDO1 ATP6V0A2 COG7 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1

More info about this panel

Menkes disease, ATP7A sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the ATP7A gene.

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Invitae ATP7A-Related Disorders Panel

United States.

By Invitae

This panel specifically test the ATP7A gene.

More info about this panel

Invitae Comprehensive Neuropathies Panel Panel

United States.

By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1

More info about this panel

Invitae Hereditary Motor Neuropathy Panel Panel

United States.

By Invitae Invitae Hereditary Motor Neuropathy Panel that also includes the following genes: SMN1 SMN2 UBA1 VAPB SLC5A7 CHCHD10 BSCL2 BICD2 TRPV4 REEP1

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 Ehlers-Danlos Syndrome Panel Panel

United States.

By Invitae Invitae Ehlers-Danlos Syndrome Panel that also includes the following genes: FKBP14 P3H1 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CRTAP CHST14

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

Menkes syndrome: ATP7A gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ATP7A gene.

More info about this panel

Menkes, Síndrome de: Deleciones-Duplicaciones (MLPA) gen ATP7A Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ATP7A gene.

More info about this panel

NGS panel - Cutis laxa Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Cutis laxa that also includes the following genes: RIN2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

More info about this panel

Menkes Disease: ATP7A Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ATP7A gene.

More info about this panel

Menkes Disease: ATP7A Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ATP7A gene.

More info about this panel

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

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

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

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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

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Distal Hereditary Motor Neuropathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Distal Hereditary Motor Neuropathy NGS Panel that also includes the following genes: SLC5A7 BSCL2 FIG4 TRPV4 REEP1 DCTN1 MEGF10 DNMT1 HSPB8 GAN

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Charcot Marie Tooth Disease Extended NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1

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ATP7A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP7A gene.

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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

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Cutis Laxa Panel Panel

Finland.

By Blueprint Genetics Cutis Laxa Panel that also includes the following genes: SLC2A10 ATP6V0A2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

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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

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Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

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Ehlers-Danlos Syndrome Panel Panel

Finland.

By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2

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Spinal Muscular Atrophy Panel Panel

Finland.

By Blueprint Genetics Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 SMN1 SMN2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2

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MENKES syndrome Panel

Spain.

By Bioarray

This panel specifically test the ATP7A gene.

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Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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MENKES DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ATP7A gene.

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OCCIPITAL HORN SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ATP7A gene.

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CUTIS LAXA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CUTIS LAXA: NGS PANEL that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

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ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL that also includes the following genes: SCO2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2

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NEURONOPATHY, DISTAL HEREDITARY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NEURONOPATHY, DISTAL HEREDITARY NGS PANEL that also includes the following genes: SLC5A7 BSCL2 MFN2 TRPV4 REEP1 DCTN1 FBXO38 HSPB8 GARS HINT1

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Menkes Disease, Sequencing ATP7A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP7A gene.

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Menkes Disease , Deletions-Duplications (MLPA) ATP7A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP7A gene.

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Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TALDO1 ATP6V0A2 COG7 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A

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Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel

Spain.

By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B

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X-Linked Distal Spinal Muscular Atrophy Type 3 , Massive Sequencing (NGS) ATP7A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP7A gene.

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Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel

Spain.

By Reference Laboratory Genetics Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SCO2 SMN1 SMN2 UBA1 VAPB VRK1 SLC5A7 BSCL2 TRPV4 REEP1

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Occipital Horn Syndrome , Massive Sequencing (NGS) ATP7A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP7A gene.

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