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Results: 1 to 20 of 48

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

CoA-3-methylcrontonyl carboxylase 1 deficiency

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

Organic Aciduria Sequencing Panel

PreventionGenetics
United States
2429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hyperammonemia Sequencing Panel

PreventionGenetics
United States
3837
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

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

MCCC1 Sequence Analysis (Prenatal Diagnosis)

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

MCCC1 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

MCCC1 Deletion/Duplication Analysis

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

MCCC1 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

MCCC1 & MCCC2 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
22
  • 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

3-Methylcrotonyl-CoA Carboxylase Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

3-Methylcrotonyl-CoA Carboxylase Deficiency Panel Deletion/Duplication Panel

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
22
  • D Deletion/duplication analysis

3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC1 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

Acylcarnitine Analysis - Plasma

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
2327
  • A Analyte

3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel

PreventionGenetics
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Results: 1 to 20 of 48

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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