X-LINKED CARRIER

The relevant test for women before planning a pregnancy.

OVERVIEWPATIENTFERTILITY SPECIALIST

X-Linked Carrier

The risk of transmitting a genetic mutation that can cause disease is significantly higher if a woman becomes pregnant with a male child.

Highlights

  • The X-linked carrier test is performed using two techniques: Next Generation Sequencing (NGS) and CGG Repeat Expansion with TP-PCR.
  • The test studies 12 genes related to recessive diseases specifically associated with the X chromosome.
  • X-Linked Carrier is recommended only for women before planning a pregnancy

X-Linked Carrier

The X-Linked Carrier test is a specific genetic test for women who wants to get pregnant. It is a genetic screening panel containing 12 genes associated with recessive diseases associated specifically with the X chromosome. The X-Linked Carrier test reveals if the female is a carrier of these genetic diseases and thereby if she risks passing them on to her children. As two copies of the recessive mutations are needed to cause disease, these are most prominent in boys.

What are the diseases related to the X-linked carrier test?

  • Fragile X Syndrome.
  • Adrenoleukodystrophy.
  • Choroideremia.
  • Alport syndrome.
  • Duchenne muscular dystrophy (DMD).
  • Hypohidrotic ectodermal dysplasia.
  • Hemophilia A (HEMA).
  • Hemophilia B (HEMB).
  • Emery-Dreifuss muscular dystrophy 6.
  • Fabry disease.
  • Retinoschisis1, X-linked, juvenile (RS1).

How to do the test?

To do the test, a sample of saliva or blood is necessary. To collect the saliva sample, we will send a sample collection kit, collecting sample instructions, and shipping instructions for sending the sample to Amplexa Genetics.

You can expect a response no later than four weeks after we have received your sample.

THE ANALYSIS

Technical Specifications

  • The panel includes 12 X-linked genes
  • Sequencing of coding regions +/- 10 flanking intronic bases
  • ≥99% of targeted genes covered at ≥20x sequenced by Next Generation Sequencing
  • FMR1 is analyzed for CGG repeats expansion with TP-PCR
  • Allow quality SNV’s are verified by Sanger sequencing

SAMPLE REQUIREMENTS

  • Blood (2-5 ml EDTA-blood),
  • Saliva sample in preservation solution (minimum 2 mL) or
  • DNA (minimum 3 µg)

To learn more about how X-Linked Carrier test can help your patients, please contact one of our experts for more information.

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