Clinical and research tests for PLEKHM1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PLEKHM1 - 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
Abnormal Mineralization Panel Centogene AG - the Rare Disease Company Germany	95	95	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteopetrosis, autosomal recessive 6, 611497; OPTB6 (Intermediate osteopetrosis) (PLEKHM1 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
Osteopetrosis, autosomal recessive 6, 611497; OPTB6 (Intermediate osteopetrosis) (PLEKHM1 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
Osteopetrosis, autosomal recessive 6 Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis, autosomal recessive 6 NGS test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis, autosomal recessive 6 Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteopetrosis, autosomal recessive 6 Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis, autosomal recessive 6 Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteopetrosis, autosomal recessive 6 NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	14	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis and Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	14	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis and Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	14	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PLEKHM1 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	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
Osteopetrosis (panel NGS basado en WES de 9 genes, incluyendo análisis de CNVs) CGC Genetics Unilabs Portugal	1	9	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.