Description

Spastic Paraplegia/Spasticity/NBIA (Neurodegeneration with Brain Iron Accumulation) is a rare inherited disorder that causes weakness & stiffness in leg muscles. The weakness is progressive in nature & there maybe muscle stffness & involuntary spasms. NBIA shows abnormal accumulation of iron in brain leading to dystonia, dyrarthria, choreoathetosis, muscle rigidity, ataxia, confusion etc. A total of 790 genes and the associated variants are analysed which are implicated in the causation / association with Spastic Paraplegia/Spasticity/NBIA (Neurodegeneration with Brain Iron Accumulation)

Test Code: GM152

Technique: Next Generation Sequencing (NGS)

Sample: Minimum 3ml of peripheral blood; minimum 1 microgram of DNA (concentration of 50-100ng/microliters); 300-500mg of CVS; Amniotic fluid of 15-20ml/T25 culture flask with 100% confluency For Dried Blood Spots (FTA Cards) - Maximum 125 l of the sample to be spotted per area of the card. Five full blood spots (circles) are required in order to run the test For Product of Conception (POC) - Fresh placental or fetal tissue(Min: 5 mg) submerged in stable transport media or sterile saline 1.In case of autopsy- skin or tissue from internal organs (if fresh) or placenta from fetal side. 2.If no autopsy is performed: Placenta from fetal side is preferred (e.g. villi) 3.n case of Placenta, maternal cell contamination to be ruled out. Maternal blood sample to be sent along for MCC testing Should NOT FREEZE. Should NOT be placed in formalin

Transportation Temperature: 20-25⁰C CVS at 2-8⁰C POC at 20-25⁰C/ Refrigerated

Reported on: 21th Working Day by 7:00 p.m