Clinical and research tests for C1848552 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 74

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Methylmalonic aciduria and homocystinuria, cblD type, 277410, Autosomal recessive (Methylmalonic acidemia with homocystinuria) (MMADHC gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Methylmalonic aciduria, cblD type, variant 2, 277410, Autosomal recessive (Methylmalonic acidemia with homocystinuria) (MMADHC 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
Invitae Hyperammonemia Panel Invitae United States	75	72	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel PreventionGenetics, part of Exact Sciences United States	34	39	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Methylmalonic Acidemia and Homocystinuria Panel Invitae United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C3 Panel Invitae United States	15	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Invitae United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Homocystinuria Panel PreventionGenetics, part of Exact Sciences United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cobalamin Metabolism Panel (MitomeNGS) Baylor Genetics United States	10	9	C Sequence analysis of the entire coding region
MMADHC Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	3	1	T Targeted variant analysis
MMADHC Sequence Analysis Baylor Genetics United States	3	1	C Sequence analysis of the entire coding region
MMADHC Deletion/Duplication Analysis Baylor Genetics United States	3	1	D Deletion/duplication analysis
MMADHC Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Methylmalonic Aciduria and Homocystinuria, cblD Type, via the MMADHC Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Methylmalonic Acid - Plasma Baylor Genetics United States	9	1	A Analyte

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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.