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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

SGCD Gene Limb-girdle muscular dystrophy, autosomal recessice type 2F NGS Genetic DNA Test

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

RIPK4 Gene Popliteal pterygium syndrome, lethal type NGS Genetic DNA Test

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

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RIPK4 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

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

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Popliteal pterygium syndrome, Bartsocas-Papas type, 263650, Autosomal recessive (Bartsocas-Papas syndrome) (RIPK4 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

Popliteal pterygium syndrome, Bartsocas-Papas type, 263650, Autosomal recessive (Bartsocas-Papas syndrome) (RIPK4 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

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Cleft Lip/Cleft Palate Panel

PreventionGenetics, part of Exact Sciences
United States
177161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ambiguous Genitalia Panel

PreventionGenetics, part of Exact Sciences
United States
12885
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Popliteal pterygium syndrome Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Popliteal pterygium syndrome NGS test

HNL Genomics Connective Tissue Gene Tests
United States
22
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Popliteal pterygium syndrome Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) Panel

PreventionGenetics, part of Exact Sciences
United States
149158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) and Infertility Panel

PreventionGenetics, part of Exact Sciences
United States
223238
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qGenEx Sex development disorders

Quantitative Genomic Medicine Laboratories, SL
Spain
4548
  • C Sequence analysis of the entire coding region

Popliteal Pterygium Syndrome 2, Lethal Type via the RIPK4 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1240
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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.