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Results: 21 to 40 of 75

Tests names and labsConditionsGenes, analytes, and microbesMethods

Sialic acid storage disorder, infantile, 269920, Autosomal recessive (Free sialic acid storage disease) (SLC17A5 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Salla disease, 604369, Autosomal recessive; SD (Free sialic acid storage disease) (SLC17A5 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Metabolic Non-Immune Fetal Hydrops Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5051
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Salla Disease

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
525338
  • C Sequence analysis of the entire coding region

Urine for oligosaccharide by TLC

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
31
  • A Analyte

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Lysosomal Storage Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
8757
  • D Deletion/duplication analysis

Invitae Mucopolysaccharidoses Plus (MPS+) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3827
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sialic Acid Storage Disorder (Salla Disease) via the SLC17A5 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

SLC17A5

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Salla disease (sequence analysis of SLC17A5 gene)

CGC Genetics Unilabs
Portugal
11
  • 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
287578
  • D Deletion/duplication analysis
  • 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

Results: 21 to 40 of 75

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.