If tested for infectious and genetic diseases
ID
Password
Log In
If tested for infectious and genetic diseases
ID
Password
Log In
Admin
Toggle navigation
Results
Your results
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
Burgas
Pazardzhik
Show me all
Contact Us Form
About us
About Us
Our Team
Documentation
Informed Consent
Informed Consent NGS
Cytogenetic analysis information
Order DNA Analysis
Aneuploidy
Aneuploidy (Full Panel)
Taking-Over Certificate
Additional taxes and services
Home
Tests
Spinal muscular atrophy with respiratory distress, Type 1
Test Spinal muscular atrophy with respiratory distress, Type 1
Spinal muscular atrophy with respiratory distress, Type 1
Info
Description
SMARD1 is caused by homozygous or compound heterozygous mutation in the IGHMBP2 gene.
Genes:
IGHMBP2
Disorders:
Muscle Atrophy
Clinical Utility:
Carrier testing in unaffected family members
Methods
Sanger sequencing -
1700lv.
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
MLPA -
800lv.
Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
2 weeks
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:
Ops!
No files are available!
