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Results: 1 to 20 of 100

Tests names and labsConditionsGenes, analytes, and microbesMethods

SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic DNA Test

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

IRF6 Gene Orofacial cleft type 6 NGS Genetic DNA Test

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

IRF6 Gene Popliteal pterygium syndrome type 1 NGS Genetic DNA Test

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

IRF6 Gene van der Woude syndrome type 1 NGS Genetic DNA Test

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

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

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

IRF6 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

Cleft lip, cleft palate and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleft lip, cleft palate and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
314
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cleft lip, cleft palate and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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 1, 119500, Autosomal dominant; PPS (Autosomal dominant popliteal pterygium syndrome) (MLPA)

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

Popliteal pterygium syndrome 1, 119500, Autosomal dominant; PPS (Autosomal dominant popliteal pterygium syndrome) (IRF6 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

Popliteal pterygium syndrome 1, 119500, Autosomal dominant; PPS (Autosomal dominant popliteal pterygium syndrome) (Prenatal) (MLPA)

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

Results: 1 to 20 of 100

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.