Clinical and research tests for 605577 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NEXMIF Gene Mental retardation, X-linked, nonsyndromic NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT) Machaon Diagnostics United States	26	31	C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	70	50	D Deletion/duplication analysis
Bleeding disorder, platelet-type, 18, 615888, Autosomal recessive; BDPLT18 (Bleeding disorder due to CalDAG-GEFI deficiency) (RASGRP2 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
Platelet Function Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	40	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Platelet bleeding disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Platelet bleeding disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Platelet bleeding disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	34	C Sequence analysis of the entire coding region T Targeted variant analysis
Bleeding Disorders Panel PreventionGenetics, part of Exact Sciences United States	78	79	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal	1	344	C Sequence analysis of the entire coding region
Bleeding Disorders Panel CGC Genetics Unilabs Portugal	1	121	C Sequence analysis of the entire coding region
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
Coagulation Disorders Panel Mendelics Brazil	1	51	C Sequence analysis of the entire coding region
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
Autism Spectrum Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey	1	160	C Sequence analysis of the entire coding region
Amelogenesis Bioarray Spain	1	172	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 Bleeding Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	80	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RASGRP2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication 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.