U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

BSCL2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Encephalopathy, progressive, with or without lipodystrophy, 615924, Autosomal recessive; PELD (Severe neurodegenerative syndrome with lipodystrophy) (BSCL2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Encephalopathy, progressive, with or without lipodystrophy, 615924, Autosomal recessive; PELD (Severe neurodegenerative syndrome with lipodystrophy) (BSCL2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Generalized, Partial and Atypical Lipodystrophy Panel

PreventionGenetics, Part of Exact Sciences
United States
5729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Congenital Generalized Lipodystrophy (CGL) Panel

PreventionGenetics, Part of Exact Sciences
United States
339
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia Exome

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

Invitae Hereditary Motor Neuropathy Panel

Invitae
United States
6026
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Invitae
United States
20196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Spastic Paraplegia Comprehensive Panel

Invitae
United States
9862
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Charcot-Marie Tooth Disease Comprehensive Panel

Invitae
United States
12352
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel.

Genologica Medica
Spain
13384
  • C Sequence analysis of the entire coding region

Predominantly distal muscular atrophy

Genologica Medica
Spain
4318
  • C Sequence analysis of the entire coding region

Amyotrophic lateral sclerosis panel. 32-gene NGS panel.

Genologica Medica
Spain
6632
  • C Sequence analysis of the entire coding region

Congenital and familial lipodystrophy panel. NGS panel of 11 genes.

Genologica Medica
Spain
2911
  • C Sequence analysis of the entire coding region

Progeria panel. 17-gene NGS panel.

Genologica Medica
Spain
4817
  • C Sequence analysis of the entire coding region

Spastic paraplegia panel

Genologica Medica
Spain
10060
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 47

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.