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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Inheritest 300 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
172350
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Inheritest High Frequency panel

Integrated Genetics Westborough LabCorp
United States
109110
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

3-Methylcrotonyl-CoA carboxylase deficiency

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

3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
32
  • C Sequence analysis of the entire coding region

Invitae 3-Methylcrotonyl-CoA Carboxylase Panel

Invitae
United States
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carboxylases

Biochemical Genetics Laboratory University of California San Diego
United States
44
  • E Enzyme assay

MCCC2 Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MCCC1 Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

3-Methylcrotonyl-CoA Carboxylase Deficiency

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
13
  • A Analyte

3-Methylcrotonyl-CoA Carboxylase Deficiency

Revvity Omics Revvity
United States
11
  • A Analyte

Results: 1 to 18 of 18

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.