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Results: 1 to 16 of 16 (representing 12 labs)

Tests names and labsConditionsGenes and analytesMethods

NSD1 Mutation Analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Rapid microarray (CGH and SNP)

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

Macrocephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1221
  • C Sequence analysis of the entire coding region

Sotos Syndrome via the NSD1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Epilepsy NGS Panel

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

Macrocephaly Panel

CeGaT GmbH
Germany
1217
  • C Sequence analysis of the entire coding region

Macrocephaly Panel

CeGaT GmbH
Germany
1217
  • C Sequence analysis of the entire coding region

SETD2

Medizinisch Genetisches Zentrum München MGZ München
Germany
11
  • C Sequence analysis of the entire coding region

NSD1

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Sotos Syndrome Test

Invitae
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism Panel: Tier 2

Emory Genetics Laboratory Emory University
United States
10360
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism NGS Panel

Fulgent Genetics
United States
177100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sotos syndrome

Cincinnati Children's Cytogenetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • M FISH-metaphase

Sotos syndrome (sequence analysis of NSD1 gene)

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

Sotos syndrome (deletion/duplication analysis on NSD1 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Sotos Syndrome

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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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