Charcot-Marie-Tooth Disease (CMT1A)

Charcot-Marie-Tooth Disease (CMT1A) is a genetic condition associated with variants in the PMP22 gene or genes. Molecular genetic testing can assist with diagnostic confirmation, familial assessment, and appropriate clinical evaluation.

Indications: Why test PMP22?

Clinical findings suggestive of Charcot-Marie-Tooth Disease (CMT1A).
Family history of Charcot-Marie-Tooth Disease (CMT1A) or a known familial genetic variant.
Molecular confirmation following appropriate clinical assessment.
Genetic assessment of relatives where clinically indicated.

When should I take the test? Testing may be considered when clinical findings or family history suggest Charcot-Marie-Tooth Disease (CMT1A) and molecular confirmation is clinically indicated.

Do I need to fast or prepare? No fasting or special preparation is required.

Fields marked with the red asterisk (*) are mandatory

Amount: (KES)

Type:

Description:

Reference:

*First Name:

*Last Name:

*Country:

*Email Address:

P.O. BOX:

*Sample Collection Preference

Visit the laboratory I will come to the laboratory for sample collection. Home sample collection I would like my sample collected at my location.

*Telephone:

Test Summary Specs

Turnaround Time	7 to 14 Business Days
Estimated Cost	KES 27,000
Methodology	Targeted PCR / Sanger / NGS Variant Panel
Sample Type	5 mL Peripheral Whole Blood (EDTA), Buccal Swabs, or Prenatal Samples
Clinical Use	Diagnostic Confirmation, Carrier Screening, Reproductive Risk Assessment