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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

NR5A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Disorders of Sex Development Panel

Invitae
United States
8853
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypospadias Panel

PreventionGenetics, part of Exact Sciences
United States
15673
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ambiguous Genitalia Panel

PreventionGenetics, part of Exact Sciences
United States
12885
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Panel

Genetic Services Laboratory University of Chicago
United States
911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NR5A1 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • D Deletion/duplication analysis

Infertility

Genologica Medica
Spain
2511
  • C Sequence analysis of the entire coding region

Panel of premature ovarian failure. NGS panel of 15 genes.

Genologica Medica
Spain
5015
  • C Sequence analysis of the entire coding region

Genital Abnormalities / Sex Development Disorders Panel

Genologica Medica
Spain
9549
  • C Sequence analysis of the entire coding region

46,XY sex reversal: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1110
  • C Sequence analysis of the entire coding region

Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2

Reference Laboratory Genetics
Spain
74
  • C Sequence analysis of the entire coding region

46 XX Sex Reversal Type 4 , Sequencing NR5A1

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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