Clinical and research tests for IGFALS - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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	1	1	C Sequence analysis of the entire coding region
IGFALS Institute for Human Genetics University Medical Center Freiburg Germany	1	1	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	1	104	C Sequence analysis of the entire coding region
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	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	1	1	C Sequence analysis of the entire coding region
Short Stature Panel Mendelics Brazil	1	67	C Sequence analysis of the entire coding region
SHORT STATURE EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	152	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
Acid-labile subunit, deficiency of: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Achromatopsia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Acid-labile subunit deficiency Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	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	82	60	C Sequence analysis of the entire coding region
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Blueprint Genetics Finland	2	308	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Short Stature Syndrome Panel Blueprint Genetics Finland	4	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IGFALS Single Gene Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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