Topic Name

Message

If ARUP Consult does not answer your test selection and interpretation questions, or if you would like to suggest ways to improve content or usability, please send a message to the Consult editorial staff.

Please do not include any patient-specific or personal health information (PHI) in your message.

Email Address

An email address is not required, but providing one allows the ARUP Consult editorial staff to respond directly. ARUP will only use your email address to respond to your feedback. See the ARUP privacy policy for more information regarding email use.

CAPTCHA

What code is in the image?

Enter the characters shown in the image.

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Genetic Carrier Screen (CF, FXS, and SMA) With Reflex to Methylation

3000258

Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation 3000258

Method

Matrix-Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF) Mass Spectrometry/Polymerase Chain Reaction (PCR)/Capillary Electrophoresis/Multiplex Ligation-Dependent Probe Amplification (MLPA)

For more information on test use in cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA), see the following Test Fact Sheets:

Cystic Fibrosis (CFTR) Expanded Variant Panel

Fragile X Syndrome

Spinal Muscular Atrophy

Feedback

Genetic Carrier Screen (CF, FXS, and SMA) With Reflex to Methylation