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Results: 1 to 20 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

FBLN5 - NGS including CNV analysis

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

Marfan Syndrome and Related Aortopathies Panel

PreventionGenetics, Part of Exact Sciences
United States
4038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cutis laxa Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cutis laxa Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cutis laxa NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cutis laxa, autosomal recessive, type IA, 219100, Autosomal recessive; ARCL1A (Autosomal recessive cutis laxa type 1) (FBLN5 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

Cutis laxa, autosomal recessive, type IA, 219100, Autosomal recessive; ARCL1A (Autosomal recessive cutis laxa type 1) (FBLN5 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

Connective Tissue Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skin and Connective Tissue Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
12569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cutis laxa Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cutis laxa NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cutis laxa Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cutis Laxa via the FBLN5 Gene

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

Invitae Comprehensive Neuropathies Panel

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

Charcot-Marie-Tooth - Demyelinating Neuropathy Panel

PreventionGenetics, Part of Exact Sciences
United States
3424
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Charcot-Marie Tooth Disease Comprehensive Panel

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

Ehlers-Danlos Syndromes (EDS) Panel

PreventionGenetics, Part of Exact Sciences
United States
9965
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cutis laxa, autosomal recessive, type IA (sequence analysis of FBLN5 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Dermatological. Full panel

Genologica Medica
Spain
12368
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 49

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.