Clinical and research tests for 147440 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
IGF1 Gene Growth retardation with deafness and mental retardation due to IGF1 deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
IGF1 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
MayoComplete Solid Tumor Panel Mayo Clinic Laboratories Mayo Clinic United States	1	476	I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region
JAX SOMASEQ The Jackson Laboratory for Genomic Medicine United States	1	517	D Deletion/duplication analysis I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Endeavor PathGroup United States	73	505	C Sequence analysis of the entire coding region
OmniSeq INSIGHT OmniSeq, Inc. United States	1	525	R RNA analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747, Autosomal recessive (Growth delay due to insulin-like growth factor type 1 deficiency) (IGF1 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
Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747, Autosomal recessive (Growth delay due to insulin-like growth factor type 1 deficiency) (IGF1 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Short stature with endocrinopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	16	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Short stature with endocrinopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	16	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short stature with endocrinopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	16	14	C Sequence analysis of the entire coding region T Targeted variant analysis

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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.