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

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 33

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
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
OmniSeq INSIGHT OmniSeq, Inc. United States	1	525	R RNA analysis C Sequence analysis of the entire coding region
Au-Kline syndrome, 616580, Autosomal dominant; AUKS (Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome) (HNRNPK 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
Au-Kline syndrome, 616580, Autosomal dominant; AUKS (Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome) (HNRNPK 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
Kabuki syndrome Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	3	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kabuki syndrome Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	3	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Kabuki syndrome NGS test HNL Genomics Connective Tissue Gene Tests United States	3	5	C Sequence analysis of the entire coding region T Targeted variant analysis
ProvSeq 523 Providence St. Joseph Health Molecular Genomics Laboratory Providence St Joseph Health United States	1	523	C Sequence analysis of the entire coding region
Kabuki Syndrome Panel PreventionGenetics, part of Exact Sciences United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Hematologic Cancer Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	215	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Myeloid Malignancies Mutation and Copy Number Variation Panel by Next Generation Sequencing ARUP Laboratories, Molecular Oncology ARUP Laboratories United States	6	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1293	C Sequence analysis of the entire coding region
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	141	C Sequence analysis of the entire coding region
Congenital Heart Defects Panel CGC Genetics Unilabs Portugal	1	208	C Sequence analysis of the entire coding region
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
OnkoSight Advanced Comprehensive Solid Tumor Panel (DNA/RNA) BioReference Health United States	1	523	C Sequence analysis of the entire coding region
OnkoSight Advanced 523 Gene NGS Panel BioReference Health United States	1	523	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 33

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.