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Results: 1 to 20 of 32 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

Lipodystrophy congenital generalized type 2

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Generalized Lipodystrophy (CGL) Sequencing Panel

PreventionGenetics
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Mixed hyperlipidemias

Health in Code S.L.
Spain
1113
  • C Sequence analysis of the entire coding region

BSCL2. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

BSCL2. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

AGPAT2. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

AGPAT2. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

Seipin-Related Disorders via the BSCL2 Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Generalized Lipodystrophy Panel

Genetic Services Laboratory University of Chicago
United States
44
  • C Sequence analysis of the entire coding region

Comprehensive Lipodystrophy Panel

Genetic Services Laboratory University of Chicago
United States
1011
  • C Sequence analysis of the entire coding region

Berardinelli-Seip Congenital Lipodystrophy Type 2 , Sequencing BSCL2 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
8658
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HSP, Complete Dominant Evaluation

Athena Diagnostics Inc
United States
1710
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HSP, Comprehensive Evaluation

Athena Diagnostics Inc
United States
4024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HSP, Supplemental Dominant Evaluation

Athena Diagnostics Inc
United States
126
  • C Sequence analysis of the entire coding region

Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel

CeGaT GmbH
Germany
2217
  • C Sequence analysis of the entire coding region

Berardinelli-Seip congenital lipodystrophy

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Single gene testing BSCL2

CeGaT GmbH
Germany
41
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy (SMA) Panel

CeGaT GmbH
Germany
4427
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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.

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