Services


Special Tests

Full Gene Sequencing &
Deletion/Duplication Testing
 
TEST : TSC1-TSC2 Complex
 
OTHER TEST REQUEST NAME:
Tuberous Sclerosis - 1
 
TEST COMPOSITION:
Not applicable
 
INTENDED USE:
Tuberous Sclerosis or TSC is a rare genetic disease causing benign tumors to grow in the
brain and on other vital organs. This disease is caused by defects in TSC1 and TSC2 gene.
A combination of symptoms may include seizures, developmental delay, behavioral problems,
skin abnormalities, lung disease and kidney disease.
 
• Genetic testing can provide further understanding if you have TSC.
Genetic testing can:
1. Identify mutations in up to 80% of people who have TSC based on clinical criteria.
(It's important to note that a negative test result does NOT exclude a diagnosis of TSC)
2. Offer more knowledge in cases that are questionable based on clinical assessment alone
3. Provide more information to help with family planning
4. Screen family members of a person with TSC
 
METHODOLOGY:
Next-gene sequencing and Exon Array CGH for the deletion/duplication
 
LABORATORY SECTION:
Special Test
 
SPECIAL INSTRUCTIONS/PATIENT PREPARATIONS:
No patient preparation necessary.
 
COLLECTION/SAMPLE CONTAINER:
EDTA or Violet Tube
 
SPECIMEN AND VOLUME REQUIREMENT
Note: Follow tube manufacturer recommendation.: 2 pcs of 4 mL EDTA whole blood
 
ALTERNATIVE SPECIMEN AND VOLUME REQUIREMENT:
Not Applicable
 
SPECIMEN STABILITY
•   ROOM TEMPERATURE (15-25°C) : 24 Hours
•   REFRIGERATED TEMPERATURE (2-8°C) : 48 Hours
•   FREEZER TEMPERATURE (-20°C) : 28 Days
 
TRANSPORT TEMPERATURE:
Transport specimen at 2 – 8 °C (with cold packs)
 
REJECTION CRITERIA:
• Exceeded sample stability requirement
• Quantity not sufficient
• Improperly labeled specimen
• Improper collection tube used
• Clotted Sample
• Over-filled or Under-filled tube
 
RUNNING DAY:
Batch Running
 
CUT OFF TIME:
Friday 4:00 PM
 
TAT/RELEASING OF RESULTS:
56 days (excluding Saturdays, Sundays and Holidays)
 
REFERENCE INTERVAL/RESULT INTERPRETATION:
Not Applicable
 
LIMITATIONS/INTERFERENCES:
None specified.
 
FREQUENTLY ASKED QUESTIONS (FAQS):
Not Applicable

 

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