Chromosomal Array CNV+SNP Array Blood

Chromosomal Array CNV+SNP Array Blood examines -

• Blood to identify genetic variations known as Copy Number Variants (CNVs) and Single Nucleotide Polymorphisms (SNPs)
• It helps identify CNV and SNP in your genetic material
• CNV involves changes in gene copy numbers, while SNP looks for variations at a single nucleotide level
• These variations can affect how genes function and contribute to the risk of developing certain genetic disorders

The test is done -

• To detect genetic abnormalities that could lead to inherited disorders
• To assess the risk of developing certain genetic conditions
• To guide treatment decisions for genetic diseases

This test is usually recommended -

• For individuals with a family history of genetic disorders
• When symptoms hint at potential genetic conditions
• To determine the success of treatment for genetic diseases

Abnormal results may indicate -

• Increased risk of inherited conditions
• Genetic predispositions to specific diseases
• The need for further genetic counselling or testing

During this test -

• A blood sample will be collected from your arm using a needle
• The sample will be analysed to check for genetic variations
• You might feel slight discomfort during blood collection

Before the test -

• Follow any fasting instructions provided by your doctor
• Avoid eating or drinking anything (except water) for a specific period
• Follow any specific instructions given by your healthcare provider

Other tests often ordered along with this include -

• Genetic Screening: Identifies inherited genetic disorders
• Karyotype Analysis: Examines chromosomes for abnormalities
• FISH Test: Detects specific DNA sequences in chromosomes

Chromosomal Microarray Analysis (CMA) or SNP Microarray Testing

This test is crucial in diagnosing and predicting various genetic conditions like Down syndrome, DiGeorge syndrome, and Prader-Willi syndrome that are caused by chromosomal abnormalities detected through this analysis.