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Results: 1 to 20 of 63

Tests names and labsConditionsGenes, analytes, and microbesMethods

Mixed hyperlipidemias

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

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

Hypercholesterolemia panel

Genetic Services Laboratory University of Chicago
United States
1510
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dyslipidemia panel

Genetic Services Laboratory University of Chicago
United States
1729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lipodystrophy, congenital generalized, type 2, 269700, Autosomal recessive; CGL2 (Berardinelli-Seip congenital 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

Lipodystrophy, congenital generalized, type 2, 269700, Autosomal recessive; CGL2 (Berardinelli-Seip congenital 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

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

Progeroid syndromes and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progeroid syndromes and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Progeroid syndromes and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • 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

Results: 1 to 20 of 63

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.