Clinical and research tests for C1394891 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CBLIF - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intrinsic factor deficiency, 261000, Autosomal recessive; IFD (Congenital intrinsic factor deficiency) (GIF 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
GIF - Intrinsic factor deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	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
Methylmalonic Acid - Plasma Baylor Genetics United States	9	1	A Analyte
Homocysteine Determination - Plasma Baylor Genetics United States	10	2	A Analyte
Intrinsic factor deficiency (sequence analysis of GIF gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Organic acidemia / Aciduria and cobalamin deficiency panel. NGS panel of 53 genes. Genologica Medica Spain	53	53	C Sequence analysis of the entire coding region
GIF Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
GIF Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
GIF Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	356	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HEREDITARY JUVENILE MEGALOBLASTIC ANEMIA DUE TO INTRINSIC FACTOR DEFICIENCY Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Gastric intrinsic factor deficiency (GIF) Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD Netherlands	1	1	C Sequence analysis of the entire coding region
Methylmalonic Acidemia Sequencing NextGen Panel Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado United States	25	13	C Sequence analysis of the entire coding region
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	26	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GIF Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.