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Results: 1 to 20 of 28

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

GRACILE syndrome

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

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

Bjornstad Syndrome via the BCS1L Gene

PreventionGenetics
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Gracile syndrome via the BCS1L Gene

PreventionGenetics
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

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

BCS1L Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
41
  • T Targeted variant analysis

BCS1L Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

BCS1L Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
41
  • D Deletion/duplication analysis

BCS1L Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GRACILE Syndrome

Counsyl
United States
11
  • C Sequence analysis of the entire coding region

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
136141
  • T Targeted variant analysis

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3055447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inheritest Carrier Screen

Integrated Genetics Westborough Integrated Genetics
United States
9287
  • T Targeted variant analysis

GRACILE Syndrome (BCS1L)

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

CarrierMap

Recombine
United States
299297
  • T Targeted variant analysis

nucSEEK® Focus Nuclear Mitochondrial Gene Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
166172
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BCS1L

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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.