Admin
iDea
  • Results
    • Genetic and Infectious
    • Allergies and Food Intolerance
  • Tests
    • By Test
    • By Disorder
    • By Medical Specialty
    • By Gene
    • Genetic Disorders
    • Chromosomal Disorders
    • Cancer Diagnosis
    • Genetic Predispositions
    • Infectious Diagnostics
    • Biological Affinity And Identification
  • Contacts
    • Sofia
    • Plovdiv
    • Varna
    • Skopje
    • Show me all
    • Contact Us Form
  • About us
    • About Us
    • Our Team
  • Documentation
    • Informed Consent
    • Informed Consent NGS
    • Order DNA Analysis
    • Aneuploidy
    • Aneuploidy (Full Panel)
    • Taking-Over Certificate
  1. Home
  2. Tests
  3. Paramyotonia Congenita

Categories

  • Tests
  • Medical Specialties
  • Disorders
  • Genes

Test Paramyotonia Congenita

  • Paramyotonia Congenita
  • Info

Description

Paramyotonia congenita is autosomal dominant disorder with high penetrance myotonia, increased by exposure to cold intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, nonprogressive nature and lack of atrophy or hypertrophy of muscles.
Genes:
SCN4A
Disorders:
Myotonia
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members

Methods

Sanger sequencing - 1800lv.

Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Ops!
No files are available!
Read More
  • Sofia, "Ami Bue" str. №84, 2nd floor
  • tel. 0882/724 204
  • dnatest@genicalab.com
  • genetest@genicalab.com
  • Home
  • About us
  • Contacts