CNGnome® > DNA Laboratories Staging Site

CNGnome®

What is CNGnome®?

CNGnome® is a low-pass whole genome sequencing assay (8x coverage) designed for the reliable detection of copy number variants (CNVs). With increased resolution compared to traditional karyotyping and microarray analysis, it offers a more precise and comprehensive view of genomic changes.

Key Features of CNGnome®

High-Resolution CNV Detection
Accurately identifies copy number changes larger than 25 kb across the entire genome.
Uniparental Disomy Detection
Reliable identification of whole chromosome uniparental disomy (UPD) events.
Greater Accuracy & Precision
Unlike microarrays, CNGnome is not restricted by probe spacing or density, ensuring improved accuracy in defining CNVs.
Whole-Genome Coverage
Provides uniform coverage across the genome, overcoming the limitations of permanent probe selection and placement in array-based methods.

Clinical Applications

CNGnome® may be considered for:

Patients with developmental delays, intellectual disability, or congenital anomalies
Evaluation of recurrent pregnancy loss or infertility
Confirmation of suspected chromosomal abnormalities not detected by standard tests
Comprehensive follow-up after negative karyotype or microarray results

Why Choose CNGnome®?

More sensitive than traditional karyotyping
More precise than microarrays
Provides a genome-wide, unbiased assessment of copy number changes

Specimen Requirements
Clinical usage	CNV analysis utilizing low pass genome sequencing assay (8x). Increased resolution over traditional karyotype and microarray analysis. • Reliable detection of copy number changes larger than 25kb throughout the entire genome • Reliable detection of whole chromosome uniparental disomy • Better accuracy and precision in defining CNVs as the assay is not limited by probe spacing and density • Coverage across the genome as opposed to limitations incurred by permanent probe selection and placement The specimen will be tested by our qualified referral lab
Type of sample	For fetus: • 20ml Amniotic Fluid (Sterile 15mL conical tubes) • 10 – 15pcs Chorionic Villus Sample (CVS) (Sterile 15mL conical tubes with Normal Saline) • 30mg Tissue of Product of Conception (POC) (Sterile 50ml conical tube with Normal Saline) • 1ml Fetal Blood (EDTA Tube) IMPORTANT: • For fetus sample, 3ml Maternal Blood (EDTA Tube) is compulsory to rule out maternal cell contamination For newborn baby: • Dried Blood Spots: 5 spots (DBS card) • 1ml Blood (EDTA Tube) For individual: • Dried Blood Spots: 5 spots (DBS card) • 3ml Blood (EDTA Tube) • Buccal Swab (2 swab samples in Sterile Container, WITHOUT Gel) NOTE: DBS card will ONLY be provided upon request
Patient requirement	– Gestation age CVS: 10 – 12 weeks – Gestation age for Amniotic Fluid: ≥15 weeks – No fasting required IMPORTANT: • Please sign the International Informed Consent form NOTE: Patient’s clinical presentation is an essential part of fully interpreting genetic test results. Kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
Storage & transportation	Sterile Tube / EDTA Tube – Please store at 4°C if to be kept overnight Buccal Swab / DBS card – Please store at room temperature
Turnaround Time (TAT)	18 working days

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CNGnome®

What is CNGnome®?

Key Features of CNGnome®

Clinical Applications

Why Choose CNGnome®?

At DNA LAB, we offer reference functions in molecular diagnostic and screening services for most Obstetricians, Gynaecologist, Paediatrics, Clinical Oncologists, GP Clinics, medical centres and hospitals in Malaysia.

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