PRPH

OMIMHGNC

Synonym(s): PRPH1, NEF4

Locus: 12q13.12

Protein: Peripherin

Tests

Test Type
Molecular (10)
Multi-Gene Panel (9)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (5)
Sequencing, Capillary (Sanger) (2)
Repeat Expansion / Contraction (2)
Sequencing, Next Gen (10)
Prenatal/Carrier
Carrier (2)
Lab Location
USA(5)
Poland(1)
United Kingdom(1)
Germany(2)
Austria(1)
 
Neurodegenerative Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hereditary Neuropathies
method(s): ◦ Sequencing, Next Gen 
Merseyside & Cheshire Regional Genetics Laboratory - Liverpool, United Kingdom
TAT: 4-6 weeks
price: contact lab
Amyotrophic Lateral Sclerosis (ALS) Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Hereditary Spastic Paraplegias (HSP) and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel and Copy Number Analysis; 27 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 27 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
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: 4-6 Weeks
price: contact lab
Amyotrophic Lateral Sclerosis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
PRPH
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Amyotrophic lateral sclerosis (Amyotrophe Lateralsklerose)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria