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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Acid-labile subunit, deficiency of, 615961; ACLSD (Short stature due to primary acid-labile subunit deficiency) (IGFALS gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1104
  • C Sequence analysis of the entire coding region

Short stature due to primary acid-labile subunit deficiency (sequence analysis of IGFALS gene)

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

Short Stature Panel

Mendelics
Brazil
167
  • C Sequence analysis of the entire coding region

SHORT STATURE EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1152
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

Acid-labile subunit, deficiency of: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Achromatopsia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

Acid-labile subunit deficiency

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Comprehensive Short Stature Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
8260
  • C Sequence analysis of the entire coding region

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
2308
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Short Stature Syndrome Panel

Blueprint Genetics
Finland
475
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IGFALS Single Gene

Fulgent Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.