NEFH

OMIMHGNC

Locus: 22q12.2

Protein: Neurofilament heavy subunit

 

Disorders

Tests

Test Type
Molecular (12)
Multi-Gene Panel (9)
Multi-Method Panel (7)
Test Method
Del/Dup (CNV) (6)
Linkage Analysis (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (4)
Repeat Expansion / Contraction (3)
Sequencing, Next Gen (10)
Prenatal/Carrier
Prenatal (2)
Carrier (4)
Lab Location
Portugal(1)
USA(4)
Germany(4)
Poland(1)
Greece(1)
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
TAT: 5-6 weeks
price: contact lab
Hereditary Dementias Multi-Gene NGS Panel
method(s): ◦ Linkage Analysis ◦ Sequencing, Next Gen 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
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
Amyotrophic lateral sclerosis, susceptibility to (sequence analysis of NEFH gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
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: 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
NEFH
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
TAT: ~2 weeks
price: contact lab
Amyotrophic lateral sclerosis, susceptibility to
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Amyotrophic lateral sclerosis (ALS) panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany