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Results: 1 to 20 of 70

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

Diagnostic génotypique direct de la tyrosinémie héréditaire de type 1

Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec
Canada
11
  • T Targeted variant analysis

j-FamilyReady Ashkenazi + Sephardic-Mizrahi Carrier Screen (95 genes)

EVOLVEGENE EvolveGene
United States
16595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
326204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

j-FamilyReady Ashkenazi Carrier Screen (56 Genes)

EVOLVEGENE EvolveGene
United States
10256
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
327204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Tyrosinemia type 1B

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tyrosinemia type I

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tyrosinemia type I

PROCREA Genetic Laboratory PROCREA/Opmedic Group Inc.
Canada
11
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

ExomePLUS Electrolyte & Kidney Stone

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
4649
  • C Sequence analysis of the entire coding region

FAH. Detection of the mutations c.1062 5G>A (IVS12 5 G>A), c.554-1G>T (IVS6-1 G>T), c.607-6T>G (IVS7-6 T>G) and p.Pro261Leu (P261L) by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

FAH. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

FAH Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

FAH Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FAH Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

FAH Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Results: 1 to 20 of 70

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.

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