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Results: 1 to 20 of 62

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoArray

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • U Uniparental disomy study (UPD)

CentoGenome (Whole Genome Sequencing)

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoXome (Whole Exome Sequencing)

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

Mitochondrial Genome Sequencing and Depletion/Integrity Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
4852
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial DNA Deletion Syndromes

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • D Deletion/duplication analysis

Genomic Unity® Mitochondrial Genome Deletions Analysis

Variantyx, Inc.
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IriSight™ Comprehensive Analysis - Pregnancy Loss

Variantyx, Inc.
United States
32
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

IriSight™ Comprehensive Analysis - Prenatal Proband

Variantyx, Inc.
United States
12
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

PGmito - Mitochondrial Genome Sequencing

PreventionGenetics, part of Exact Sciences
United States
1638
  • C Sequence analysis of the entire coding region

Genomic Unity Mitochondrial Genome Analysis

Variantyx, Inc.
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity Whole Genome Analysis (includes STR analysis of 36 loci) - Proband

Variantyx, Inc.
United States
12
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Genomic UnityⓇ Comprehensive Mitochondrial Disorders Analysis

Variantyx, Inc.
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity Exome Plus Analysis (includes STR analysis of 36 loci) - Proband

Variantyx, Inc.
United States
12
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Comprehensive Mitochondrial Mutation Detection

Baylor Genetics
United States
11
  • X Mutation scanning of select exons

Mitochondrial Genome Sequencing & Deletion Test

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

Complete mitochondrial DNA sequencing

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Progressive external ophthalmoplegia (CPEO, 4977bp deletion in mtDNA)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Kearns-Sayre syndrome (KSS, 4977bp deletion in mtDNA)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Deletion/duplication analysis on mitochondrial DNA

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Whole Exome and Mitochondrial Genome Sequencing, WESMT

Mayo Clinic Laboratories Mayo Clinic
United States
12
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 62

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.