Orphanet: Diagn�stico de enfermedades recesivas panel, qCarrier Plus
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Diagnosis of recessive diseases (panel, qCarrier Plus)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 15/01/2018
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Last update: January 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (315)
List of genes tested (including panels) (304)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.