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Results: 21 to 40 of 51

Tests names and labsConditionsGenes, analytes, and microbesMethods

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

XRCC4

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1104
  • C Sequence analysis of the entire coding region

Bone diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
1662
  • C Sequence analysis of the entire coding region

Short stature, microcephaly, and endocrine dysfunction (sequence analysis of XRCC4 gene)

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

Short Stature Panel

Mendelics
Brazil
167
  • C Sequence analysis of the entire coding region

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

SHORT STATURE EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1152
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel.

Genologica Medica
Spain
6348
  • C Sequence analysis of the entire coding region

3M syndrome / primordial dwarfism panel. NGS panel of 24 genes.

Genologica Medica
Spain
3324
  • C Sequence analysis of the entire coding region

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

Short Stature

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
186
  • C Sequence analysis of the entire coding region

Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
19560
  • C Sequence analysis of the entire coding region

Stroke (NGS Panel and Copy Number Analysis + mtDNA)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
385
  • C Sequence analysis of the entire coding region

Basal Ganglia Calcification Dystonia (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
563
  • C Sequence analysis of the entire coding region

Comprehensive Dementia (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
10145
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • 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.