Clinical and research tests for 608512 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MODY 7 (sequence analysis of KLF11 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GenepoweRx_Cardiac Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	63	102	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Chronic granulomatous disease due to deficiency of NCF-1, 233700, Autosomal recessive; CDG1 (Chronic granulomatous disease) (NCF1 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
Chronic granulomatous disease due to deficiency of NCF-1, 233700, Autosomal recessive; CDG1 (Chronic granulomatous disease) (NCF1 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
Chronic granulomatous disease, autosomal recessive (CGD) Department of Clinical Immunology Odense University Hospital Denmark	1	4	C Sequence analysis of the entire coding region
Infantile enterocolitis and inflammatory bowel disease monogenic (NGS panel WES based of 65 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	65	C Sequence analysis of the entire coding region
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Chronic granulomatous disease panel. 7-gene NGS panel. Genologica Medica Spain	12	7	C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mosaic Carrier Test GeneDx United States	1	1040	T Targeted variant analysis
Two Known Familial Variants in a Nuclear Gene GeneDx United States	1	1043	T Targeted variant analysis
One Known Familial Variant in a Nuclear Gene GeneDx United States	1	1045	T Targeted variant analysis
Chronic Granulomatous Disease panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	5	5	C Sequence analysis of the entire coding region
Granulomatous disease, chronic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	473	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) Laboratorio de Genetica Clinica SL Spain	4	4	C Sequence analysis of the entire coding region
Primary Immunodeficiency Panel Blueprint Genetics Finland	2	275	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.