NeoNat SCID•SMA Multiplex Real-Time PCR
Early detection of Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) is critical to prevent irreversible damage or infant mortality. SCID is a congenital genetic disorder that severely impairs immune function due to the lack of T, B, and NK cells. SMA is an autosomal recessive neuromuscular condition characterized by progressive degeneration and loss of lower motor neurons. NeoNat SCID•SMA Multiplex Real-Time PCR Kit enables simultaneous, accurate, and efficient screening of both disorders from newborn DNA extracted from dried blood spot (DBS) samples.
Overview
The NeoNat SCID•SMA Multiplex is a real-time PCR assay for the semiquantitative determination of:
- TREC and KREC – markers for T and B cell production to screen for SCID
- SMN1 and SMN2 – genetic markers for SMA detection
This multiplex format allows simultaneous screening for both disorders in a single run, improving efficiency in newborn screening laboratories.
Features
- End-to-end workflow from DNA extraction to result
- Uses 3.2 mm DBS punch as input sample
- Ready-to-use reaction mix minimizes preparation time
- Includes DBS controls with defined copy numbers and calibrators
- 2-hour turnaround time for faster reporting
- Compatible with multiple real-time PCR platforms
- Proven 100% clinical sensitivity and specificity
Technical Specifications
- Sample Type : Dried Blood Spot (DBS)
- Targets : TREC, KREC, SMN1, SMN2
- Input : 3.2 mm DBS punch
- Assay Duration : ~2 hours
- Controls : DBS controls with defined copy numbers
- Calibrators : Included in kit
- Instrument Compatibility : Multiple Real-Time PCR systems
- Clinical Performance : 100% sensitivity and specificity
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