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Results: 1 to 20 of 135

Tests names and labsConditionsGenes, analytes, and microbesMethods

FLNB Gene Spondylocarpotarsal synostosis syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

FLNB Gene Atelosteogenesis type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

FLNB Gene Atelosteogenesis type 3 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

FLNB Gene Larsen syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MVL Vision Panel

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

FLNB - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
19592
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Desbuquois dysplasia and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Desbuquois dysplasia and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Atelosteogenesis, type I, 108720, Autosomal dominant; AO1 (Atelosteogenesis type I) (FLNB 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

Atelosteogenesis, type III, 108721, Autosomal dominant; AO3 (Atelosteogenesis type III) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Atelosteogenesis, type III, 108721, Autosomal dominant; AO3 (Atelosteogenesis type III) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Boomerang dysplasia, 112310, Autosomal dominant (Boomerang dysplasia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Boomerang dysplasia, 112310, Autosomal dominant (Boomerang dysplasia) (FLNB 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

Boomerang dysplasia, 112310, Autosomal dominant (Boomerang dysplasia) (FLNB 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

Results: 1 to 20 of 135

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.