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Results: 1 to 20 of 58

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 IX (F9) Gene Sequencing with duplication/deletion (NGS, MLPA) (2 Day STAT TAT)

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

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

Hemophilia B, Factor IX Gene Mutation Screening

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • C Sequence analysis of the entire coding region

Invitae Surgical Risk Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
248
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

F9 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Hemophilia B, 306900, X-linked recessive; HEMB (Hemophilia B) (Prenatal) (MLPA)

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

Hemophilia B, 306900, X-linked recessive; HEMB (Hemophilia B) (F9 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 B, 306900, X-linked recessive; HEMB (Hemophilia B) (F9 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 B, 306900, X-linked recessive; HEMB (Hemophilia B) (MLPA)

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

Invitae Genetic Health Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hemophilia B: Carrier analysis with intragenic markers (Hhal, Ddel, Taq1)

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

F9 (Factor IX) - Genetic Analysis

Versiti Diagnostic Laboratories Versiti, Inc
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Thrombophilia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
2411
  • D Deletion/duplication analysis

Results: 1 to 20 of 58

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.