Genetic mutation test kit KP-HYW-0001

for genetic disordersfor researchfor research

Product Introduction
This kit enables simultaneous detection of SMN1 deletions and 11 SMN1 point mutations, deletions or duplications in any of the 79 DMD exons and 13 DMD point mutations, and CGG repeat expansions (premutation and full mutation) in FMR1. It also reports SMN2 copy number. Designed primarily for carrier screening related to spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD) and fragile X syndrome (FXS). For research use only — not for clinical diagnosis.

Background Information
Duchenne muscular dystrophy (DMD) is the most common X-linked recessive neuromuscular disorder, affecting ~1 in 3,500 live male births. The majority of DMD cases are caused by deletions (≈55–65%), with duplications (≈5–15%) and point mutations (≈30%) accounting for the remainder. Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with incidence ≈1 in 6,000–10,000; ~90–95% of SMA cases result from homozygous deletion of SMN1. SMN2 copy number modulates phenotype severity. Fragile X syndrome (FXS) is commonly caused by expansion and hypermethylation of CGG repeats in FMR1: full mutations (>200 repeats) and premutations (55–200 repeats) have distinct clinical and reproductive implications.

Product Description

• Product Name: Human SMN1/DMD/FMR1 mutation detection kit
• Certification: FDA
• Package Specification: 50 Tests/Kit
• Specification (pack option shown on page): 1 x 50 T
• Sample Type:
  • Peripheral Blood: ≥ 1 mL required
  • Oral Swabs: ≥ 2 swabs required

Applicable Instruments and Details
Applicable PCR instruments: ABI MiniAmp; ABI Veriti™ Dx; Dongsheng ETC821M; and similar platforms. Applicable genetic analyzers: ABI 3500 series; ABI 3730 series; Superyears Classic 116; and similar analyzers. Sample types: peripheral blood (≥1 mL) and oral swabs (≥2). Testing time: DNA-to-data in under 8 hours with streamlined operation. Result analysis*: reports SMN1 and SMN2 copy numbers and 11 SMN1 point mutations; DMD deletions/duplications across any of 79 exons and 13 DMD point mutations; FMR1 CGG repeat sizing (capable of detecting >200 repeats). Applicable: For research use only — not for clinical diagnosis.

Workflow
Workflow diagrams and procedural images are provided on the product page to illustrate sample processing, PCR and fragment/sequence analysis steps for DNA-to-data turnaround.

Technical specifications

• Cat. No.: KP-HYW-0001
• Kit content / Pack size: 50 Tests per kit (displayed pack: 1 x 50 T)
• Detects: SMN1 deletions and 11 SMN1 point mutations; SMN2 copy number information; DMD deletions/duplications across any of 79 exons and 13 DMD point mutations; FMR1 CGG repeat expansions (detects >200 repeats)
• Sample requirements: Peripheral blood ≥ 1 mL; Oral swabs ≥ 2 swabs
• Applicable PCR instruments: ABI MiniAmp; ABI Veriti™ Dx; Dongsheng ETC821M; and similar instruments
• Applicable genetic analyzers: ABI 3500 series; ABI 3730 series; Superyears Classic 116; and similar analyzers
• Turnaround time: DNA-to-data in under 8 hours (typical)
• Use status: For research use only — not for clinical diagnosis
• Intended application: Carrier screening for SMA, DMD and FXS