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Results: 1 to 20 of 91

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

BTD Gene, Full Gene Analysis

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

Biotinidase deficiency

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

FamilyReady Carrier Screen (204 Genes/400+ Disorders)

EvolveGene
United States
204156
  • C Sequence analysis of the entire coding region

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

qCarrier Plus

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

BTD. Complete sequencing

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

BTD. Detection of the mutations p.Cys33PhefsX36, p.Gln456His, p.Arg538Cys, p.Asp444His and p.Ala171Thr by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Biotinidase Deficiency - BTD Sequence Analysis

DLE - Diagnosticos Laboratoriais Especializados
Brazil
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

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

BTD Sequence Analysis (Prenatal Diagnosis)

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

BTD Sequence Analysis

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

BTD Deletion/Duplication Analysis

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

BTD Comprehensive - Sequence & Deletion/Duplication Analysis

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

Multiple Carboxylase Deficiency (Juvenile Onset) via the BTD Gene

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

Organic Acid Screen - Urine

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
1945
  • A Analyte

Acylglycine - Urine

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
159
  • A Analyte

Biotinidase Enzyme Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Enzyme assay

Results: 1 to 20 of 91

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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