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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224, Autosomal recessive; RAMSVPS (Familial retinal arterial macroaneurysm) (IGFBP7 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Familial retinal arterial macroaneurysm (sequence analysis of IGFBP7 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Hereditary Retinopathy Panel

Mendelics
Brazil
1321
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
11722
  • C Sequence analysis of the entire coding region

Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis (IGFBP7 Single Gene Test)

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Monogenic Kidney Stone Panel

Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center Mayo Clinic
United States
21144
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IGFBP7 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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