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Results: 1 to 20 of 60 (representing 40 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Smith-Magenis syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Constitutional Cytogenomic Microarray Analysis

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

Smith-Magenis syndrome (SMS)

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

Smith-Magenis syndrome FISH

Cytogenetics and Genomics 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. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

RAI1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • T Targeted variant analysis

RAI1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • T Targeted variant analysis

RAI1 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • C Sequence analysis of the entire coding region

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

PreventionGenetics
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

SMITH-MAGENIS SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Smith-Magenis Syndrome , Deletions-Duplications (MLPA) RAI1 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Smith-Magenis Syndrome , Sequencing RAI1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

RAI1 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Smith-Magenis syndrome, deletion 17p11.2

Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences
Iran
11
  • I FISH-interphase
  • M FISH-metaphase

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 60

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.

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