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Results: 21 to 40 of 82

Tests names and labsConditionsGenes, analytes, and microbesMethods

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Smith-Magenis syndrome

Genetics Service Unit National Institute of Biomedical Genomics
India
11
  • D Deletion/duplication analysis

Comprehensive Monogenic Obesity Panel

PreventionGenetics, part of Exact Sciences
United States
4352
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Constitutional Chromosomal Microarray Analysis

Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington
United States
261
  • D Deletion/duplication analysis

Smith-Magenis syndrome FISH

Cytogenetics Laboratory University of Washington
United States
11
  • M FISH-metaphase

Smith-Magenis Syndrome

Genetics Laboratory Shodair Children's Hospital
United States
11
  • M FISH-metaphase

RAI1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

RAI1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

RAI1 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

Smith-Magenis and Potocki-Lupski syndromes via the RAI1 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FISH, Smith Magenis

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
11
  • M FISH-metaphase

FISH, Smith Magenis

Quest Diagnostics Nichols Institute Chantilly
United States
11
  • M FISH-metaphase

Comprehensive Epilepsy

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

Detection by FISH of Smith-Magenis syndrome

CGC Genetics Unilabs
Portugal
11
  • F Fluorescence in situ hybridization (FISH)

Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes.

Genologica Medica
Spain
175102
  • C Sequence analysis of the entire coding region

Smith-Magenis Syndrome

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • M FISH-metaphase

Microdeletion FISH - Smith-Magenis RAI1 (17p11.2)

Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center
Turkey
11
  • M FISH-metaphase

Results: 21 to 40 of 82

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.