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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hyperinsulinism Panel

Genetic Services Laboratory University of Chicago
United States
1324
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
288218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EPISign Whole Genome Methylation Assay

Molecular Genetics Laboratory London Health Sciences Centre
Canada
191
  • M Methylation analysis

PGmax™ - Comprehensive Congenital Heart Disease Panel

PreventionGenetics, Part of Exact Sciences
United States
241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Custom Panel (Multiple Malformations/Anomalies Syndromes)

PreventionGenetics, Part of Exact Sciences
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiSign Variant

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

EpiSign Complete

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

KABUKI SYNDROME

Laboratorio de Genetica Clinica SL
Spain
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypothyroidism Panel

Genetic Services Laboratory University of Chicago
United States
1133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kabuki Syndrome Panel

Blueprint Genetics
Finland
17
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kabuki, syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Kabuki, syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
7475
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8687
  • C Sequence analysis of the entire coding region

Hereditary onco-endocrino tumors (50 genes)

Center for Human Genetics Cliniques Universitaires Saint Luc
Belgium
2549
  • C Sequence analysis of the entire coding region

Kabuki syndrome

Institute of Human Genetics Cologne University
Germany
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kabuki Syndrome

Laboratory of Human Genetics GENOMED Health Care Center
Poland
12
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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.