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Results: 21 to 40 of 51

Tests names and labsConditionsGenes, analytes, and microbesMethods

WES iron disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
2046
  • E Sequence analysis of select exons

WES mitochondrial disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1369
  • E Sequence analysis of select exons

NDUFB11 - Mitochondrial complex I deficiency

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Combined Mito Genome Plus Mito Focused Nuclear Gene Panel

GeneDx
United States
1189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Encoded Mitochondrial Disorders Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Cardiovascular panel _v.2.0

CGC Genetics Unilabs
Portugal
1264
  • C Sequence analysis of the entire coding region

Cardiomyopathy panel_v.2.0

CGC Genetics Unilabs
Portugal
1203
  • C Sequence analysis of the entire coding region

Haematological diseases panel _v.2.0

CGC Genetics Unilabs
Portugal
1344
  • C Sequence analysis of the entire coding region

Arrhythmia Panel

Mendelics
Brazil
1311
  • C Sequence analysis of the entire coding region

Cardiomyopathy Panel

Mendelics
Brazil
1311
  • C Sequence analysis of the entire coding region

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 51

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.