Panorama Test with Full Microdeletion Panel at Chughtai Lab

Overview of the Panorama Test with Full Microdeletion Panel at Chughtai Lab

The Panorama Test with Full Microdeletion Panel is a highly advanced, non-invasive prenatal test (NIPT) that screens for common genetic conditions and microdeletions using a simple maternal blood sample. Available at Chughtai Lab, this screening utilizes state-of-the-art Next-Generation Sequencing (NGS) and Single Nucleotide Polymorphism (SNP) technology to analyze cell-free fetal DNA (cfDNA) circulating in the mother\’s bloodstream. Unlike traditional prenatal screening methods, the Panorama test distinguishes between maternal and fetal DNA, resulting in exceptionally high accuracy rates and a significantly lower false-positive rate.

This comprehensive panel evaluates the risk of major chromosomal trisomies, sex chromosome aneuploidies, triploidy, and five clinically significant microdeletion syndromes. Microdeletions are small missing pieces of chromosome material that can occur in any pregnancy, regardless of maternal age. Identifying these conditions early in pregnancy provides expectant parents and healthcare providers with vital clinical insights, allowing for proactive medical planning, specialized delivery arrangements, and early therapeutic interventions immediately after birth. As a leading diagnostic network in Pakistan, Chughtai Lab provides this specialized genetic test with the highest standards of clinical precision and patient care.

Clinical Procedure: What to Expect

Patient Preparation

To ensure the most accurate results and a seamless testing experience at Chughtai Lab, patients should follow these preparation guidelines:

• Gestational Age: The test must be performed at or after 9 weeks of gestation. Gestational age should be confirmed via an ultrasound scan prior to sample collection.
• No Fasting Required: There is no need to fast before the test. Patients can eat and drink normally.
• Hydration: It is highly recommended to drink plenty of water before the blood draw to ensure optimal hydration and facilitate easier venipuncture.
• Medical Documentation: Patients must bring their latest ultrasound report, doctor\’s prescription, and complete the specific Panorama patient consent and clinical requisition form.
• Medication History: Inform the laboratory staff of any ongoing medications, particularly blood thinners or low-molecular-weight heparin, as these can occasionally affect fetal fraction levels.

During the Procedure

The Panorama Test is entirely non-invasive for the fetus, posing zero risk of miscarriage. The procedure involves a standard peripheral blood draw from the mother:

• Patient Positioning: The patient is comfortably seated in a dedicated blood collection chair.
• Sanitization: The phlebotomist sanitizes the venipuncture site (usually the inner elbow) using an antiseptic swab.
• Sample Collection: A small volume of maternal blood (typically two specialized tubes) is collected using a sterile, single-use needle.
• Post-Collection Care: Gentle pressure is applied to the puncture site with a sterile cotton ball, followed by the application of a bandage.
• Duration: The entire sample collection process takes approximately 10 to 15 minutes.
• Safety: The procedure is safe, quick, and carries no more risk than a routine blood test.

When is a Panorama Test with Full Microdeletion Panel Performed?

Advanced Maternal Age

Physicians frequently recommend the Panorama test for pregnant individuals aged 35 or older at the time of delivery. The risk of chromosomal trisomies, such as Down syndrome, increases significantly with maternal age. This test offers a highly accurate, risk-free screening option compared to invasive diagnostic procedures like amniocentesis.

Abnormal Maternal Serum Screening

If a patient receives an abnormal or high-risk result from traditional first-trimester screening (such as the double marker test) or second-trimester triple/quadruple screening, the Panorama test is utilized as a highly sensitive secondary screening tool to clarify the risk before proceeding to invasive testing.

Atypical Ultrasound Findings

When routine prenatal ultrasound scans reveal soft markers or structural anomalies associated with chromosomal abnormalities or microdeletion syndromes, obstetricians request this comprehensive panel to obtain detailed genetic information regarding the health of the fetus.

Family History of Genetic Disorders

Couples with a personal or family history of chromosomal abnormalities, microdeletion syndromes, or genetic disorders are prime candidates for this test. It provides targeted screening for specific high-impact microdeletions, such as DiGeorge syndrome, which can run in families or occur de novo.

Anxiety and Desire for Comprehensive Screening

Many expectant parents choose the Panorama test with the full microdeletion panel for peace of mind. Because microdeletions occur independently of maternal age, screening for these conditions provides reassurance and allows for comprehensive preparation for the birth of a child with special medical needs.

What Does a Panorama Test with Full Microdeletion Panel Detect?

The Panorama Test with Full Microdeletion Panel screens for a wide array of genetic conditions, including:

• Trisomy 21 (Down Syndrome): The most common chromosomal cause of intellectual disability and congenital heart defects.
• Trisomy 18 (Edwards Syndrome): A severe chromosomal abnormality associated with high rates of miscarriage and profound developmental delays.
• Trisomy 13 (Patau Syndrome): A serious condition characterized by severe congenital heart defects and multiple physical anomalies.
• Triploidy: A rare condition where the fetus has a complete extra set of chromosomes (69 instead of 46), usually leading to early pregnancy loss.
• Monosomy X (Turner Syndrome): A sex chromosome abnormality affecting females, characterized by short stature, heart defects, and infertility.
• Klinefelter Syndrome (XXY): A condition affecting males that can impact physical, language, and reproductive development.
• Triple X Syndrome (XXX): A sex chromosome variation in females that may cause mild learning disabilities or developmental delays.
• Jacob\’s Syndrome (XYY): A genetic condition in males often associated with increased height and mild learning difficulties.
• 22q11.2 Deletion Syndrome (DiGeorge Syndrome): The most common microdeletion, causing heart defects, immune system issues, cleft palate, and developmental delays.
• 1p36 Deletion Syndrome: A microdeletion syndrome causing severe intellectual disability, hypotonia, and heart defects.
• Angelman Syndrome: A genetic disorder causing severe intellectual disability, speech impairment, and movement issues.
• Prader-Willi Syndrome: A condition characterized by hypotonia, feeding difficulties in infancy, and subsequent excessive eating and obesity.
• Cri-du-chat Syndrome (5p deletion): A rare genetic disorder characterized by a high-pitched, cat-like cry, intellectual disability, and delayed development.
• Fetal Fraction: The percentage of cell-free DNA in the maternal blood that originates from the placenta, ensuring the sample has sufficient fetal DNA for an accurate result.
• Fetal Sex: Optional determination of the biological sex of the fetus (where legally permissible).
• Twin Zygosity: Distinguishes between identical (monozygotic) and fraternal (dizygotic) twin pregnancies, providing critical management information.

Turnaround Time and Report Access at Chughtai Lab

Due to the highly specialized nature of molecular genetic testing, the Panorama Test with Full Microdeletion Panel involves complex laboratory processing and bioinformatics analysis. Results are typically available within 10 to 14 working days. Chughtai Lab ensures that patients and their referring physicians receive these critical reports promptly and securely. Once the report is finalized by our consultant molecular pathologists, patients receive an automated SMS notification. Reports can be accessed online via the official Chughtai Lab website, downloaded through the Chughtai Lab Mobile App, or received directly via WhatsApp. Physical copies can also be collected from any Chughtai Lab diagnostic center across Pakistan.

Panorama Test with Full Microdeletion Panel Findings Overview

Structure / Parameter Evaluated	Normal Findings	Possible Abnormal Findings
Trisomy 21 (Down Syndrome)	Low Risk (Probability < 1:10,000)	High Risk (Increased probability of Trisomy 21)
Trisomy 18 (Edwards Syndrome)	Low Risk (Probability < 1:10,000)	High Risk (Increased probability of Trisomy 18)
Trisomy 13 (Patau Syndrome)	Low Risk (Probability < 1:10,000)	High Risk (Increased probability of Trisomy 13)
Triploidy	Not Detected / Low Risk	Detected / High Risk (Presence of an extra set of chromosomes)
Sex Chromosome Aneuploidies	Normal Male (XY) or Female (XX) complement	Monosomy X, XXY, XXX, or XYY detected
22q11.2 Deletion (DiGeorge)	Low Risk for 22q11.2 microdeletion	High Risk (Indicates potential 22q11.2 deletion)
Other Microdeletions (1p36, Angelman, Prader-Willi, Cri-du-chat)	Low Risk for evaluated microdeletions	High Risk for one or more specific microdeletions
Fetal Fraction	Adequate (typically > 2.8% to 4%)	Low Fetal Fraction (requires recollection or clinical correlation)

Note: Diagnostic findings should always be interpreted by a qualified healthcare professional together with the patient\’s symptoms, medical history, physical examination, laboratory investigations, previous imaging studies, and other relevant clinical information. Additional investigations or specialist consultation may be recommended depending on the findings.

Why Choose Chughtai Lab for the Panorama Test?

• CAP Accredited Laboratory: Chughtai Lab is accredited by the College of American Pathologists (CAP), ensuring international standards of quality and accuracy.
• Advanced Molecular Diagnostics: Equipped with cutting-edge genetic testing platforms and state-of-the-art molecular pathology departments.
• Expert Pathologists and Geneticists: Reports are reviewed and signed off by highly qualified consultant pathologists and genetic specialists.
• Convenient Home Sample Collection: Patients can avail of professional, sterile blood sample collection in the comfort of their homes across Pakistan.
• Seamless Digital Report Access: Fast and secure access to reports via the Chughtai Lab App, website, and WhatsApp.
• Nationwide Network: Conveniently located diagnostic centers and collection points in all major cities of Pakistan.
• Comprehensive Patient Support: Dedicated customer care and support to guide patients through the consent and testing process.
• Commitment to Accurate Diagnosis: Strict quality control protocols to minimize the need for sample recollection and ensure reliable results.