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Results: 1 to 20 of 60

Tests names and labsConditionsGenes, analytes, and microbesMethods

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Factor VIII (F8) Gene Sequencing With Inversion and Deletion/Duplication (NGS, IS-PCR, MLPA) (2 Day STAT TAT)

Machaon Diagnostics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

DNA Hemophilia A mutation evaluation

Bloodworks Genomics - Bleeding Disorders BloodworksNW
United States
11
  • S Mutation scanning of the entire coding region

Hemophilia A, Severe

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • D Deletion/duplication analysis

Factor VIII mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

F8 - MLPA

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis

F8 - NGS including CNV analysis

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

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hemophilia Complete Genetic Panel (F8, F9 and VWF gene sequencing F8 inversions assays) (2 Day STAT TAT)

Machaon Diagnostics
United States
63
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Hemophilia A, 306700, X-linked recessive; HEMA (Hemophilia A) (MLPA)

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

Hemophilia A, 306700, X-linked recessive; HEMA (Hemophilia A) (Prenatal) (MLPA)

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

Hemophilia A, 306700, X-linked recessive; HEMA (Hemophilia A) (F8 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

Hemophilia A, 306700, X-linked recessive; HEMA (Hemophilia A) (F8 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

Hemophilia A: Prenatal Diagnosis

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

Hemophilia A:Carrier analysis for intragenic markers (Bcl1, Xbal, In 13 and 22)

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

Results: 1 to 20 of 60

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.