GTR Home > Tests > Family Prep Screen

Overview

Test name

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Family Prep Screen (FPS)

Purpose of the test

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This is a clinical test intended for Help: Screening

Condition

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112 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
RT-qPCR
  • Applied Biosystems ViiA7 Real-Time PCR System
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq™2000 system
TTargeted variant analysis
Tetra-nucleotide repeat by PCR or Southern Blot
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

110 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: https://www.counsyl.com/clinic/

Test services

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  • Genetic counseling
  • Custom mutation-specific/Carrier testing

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.

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