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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ANKH Gene Chondrocalcinosis type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ANKH Gene Craniometaphyseal dysplasia NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	287	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States	1	318	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
ANKH - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Abnormal Mineralization Panel Centogene AG - the Rare Disease Company Germany	95	95	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoHear Panel Centogene AG - the Rare Disease Company Germany	203	194	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Abnormal mineralization disorders Deletion/ Duplication Panel HNL Genomics Connective Tissue Gene Tests United States	2	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Abnormal mineralization disorders Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States	2	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	110	50	C Sequence analysis of the entire coding region
Chondrocalcinosis 2, 118600, Autosomal dominant; CCAL2 (Familial calcium pyrophosphate deposition) (ANKH 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
Craniometaphyseal dysplasia, 123000, Autosomal dominant; CMDD (Craniometaphyseal dysplasia) (ANKH 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
Craniometaphyseal dysplasia, 123000, Autosomal dominant; CMDD (Craniometaphyseal dysplasia) (ANKH 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

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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.