AMPD1

OMIMHGNC

Synonym(s): MAD, MADA

Locus: 1p13.2

Protein: AMP deaminase 1

 

Disorders

Tests

Test Type
Biochemical (2)
Molecular (36)
Multi-Gene Panel (24)
Multi-Method Panel (13)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (9)
Mutation Scanning of Select Exons (1)
Sequencing, Capillary (Sanger) (17)
Sequencing, Next Gen (22)
Prenatal/Carrier
Prenatal (11)
Carrier (12)
Lab Location
USA(18)
Canada(6)
Spain(4)
Portugal(2)
Germany(7)
Korea, Republic of(1)
 
Myoadenylate deaminase deficiency test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 7-10 days
price: contact lab
Rhabdomyolysis: Tier 2 Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 2 weeks
price: contact lab
Adenosine Monophosphate Deaminase 1 (AMPD1) Deficiency: AMPD1 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) ◦ Microarray (CGH-Oligo, SNP, BAC) 
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Expanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 2 weeks
price: contact lab
Adenosine Monophosphate Deaminase 1 (AMPD1) Deficiency: AMPD1 Two Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 6-7 weeks
price: contact lab
Adenosine Monophosphate Deaminase 1 (AMPD1) Deficiency: AMPD1 Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 2 weeks
price: contact lab
Rhabdomyolysis: Tier 1 Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 6-7 weeks
price: contact lab
Detection of mutation Q12* in the AMPD1 gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Metabolic Myopathy, Panel Massive Sequencing (NGS) 26 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
AMP deaminase deficiency (Q12X and P48L mutations on AMPD1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
AMP deaminase deficiency (sequence analysis of AMPD1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 3-5 weeks
price: contact lab
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Muscle Weakness (Myopathy, Muscular Dystrophy)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Metabolic Myopathies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Adenosine Monophosphate Deaminase Deficiency, Sequencing AMPD1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
Single gene testing AMPD1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Expanded Neuromuscular Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Neuromuscular Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Neuromuscular Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Adenosine Monophosphate Deaminase 1 (AMPD1) Deficiency: AMPD1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Adenosine Monophosphate Deaminase 1 (AMPD1) Deficiency: AMPD1 Two Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-4 weeks
price: contact lab
Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 407 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2 weeks
price: contact lab
AMPD1 Full Gene Sequencing Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
AMPD1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Myopathy-Rhabdomyolysis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Neuromuscular NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Muscle Polyneuropathies, Panel Massive Sequencing (NGS) 112 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Myopathy due to myoadenylate deaminase deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 8-10 weeks
price: contact lab
NGS Rhabdomyolysis and Metabolic Myopathies Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
Rhabdomyolysis: Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-10 weeks
price: contact lab
NGS Neuromuscular Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
Mitochondrial Nuclear Gene Panel by Next Generation Sequencing (NGS)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Purine Metabolism Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 4-5 weeks
price: contact lab
Myopathy-rhabdomyolysis syndrome panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-5 weeks
price: $1,790.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA