Panorama Test with 22q11.2 Test Outsource Natera at Chughtai Lab

Panorama Test with 22q11.2 Test Outsource Natera at Chughtai Lab

The Panorama Non-Invasive Prenatal Test (NIPT) with 22q11.2 deletion screening, facilitated through an exclusive outsourcing arrangement with Natera (USA) at Chughtai Lab, represents a pinnacle of modern prenatal genetic screening. This advanced screening tool analyzes cell-free DNA (cfDNA) circulating in the maternal bloodstream to assess the risk of specific fetal chromosomal abnormalities and microdeletions. Unlike traditional prenatal screening methods, which rely on maternal serum biochemical markers and ultrasound measurements, the Panorama test utilizes state-of-the-art Single Nucleotide Polymorphism (SNP) technology. This highly sophisticated methodology distinguishes maternal DNA from placental DNA (which typically represents the genetic makeup of the fetus), resulting in unparalleled sensitivity, specificity, and an exceptionally low false-positive rate.

Chughtai Lab, Pakistan’s premier diagnostic network, provides seamless access to this cutting-edge genetic test. By partnering with Natera, a global leader in cell-free DNA testing, Chughtai Lab ensures that expectant parents across Pakistan can benefit from world-class genetic insights without leaving the country. The inclusion of the 22q11.2 deletion screening is particularly significant. This microdeletion, also known as DiGeorge syndrome, is the most common microdeletion syndrome, occurring in approximately 1 in 2,000 to 1 in 4,000 births. Unlike common trisomies, the risk of 22q11.2 deletion syndrome is completely independent of maternal age, making screening highly relevant for all pregnant individuals. Early detection of this condition allows multidisciplinary medical teams to prepare specialized postnatal care, drastically improving clinical outcomes for the newborn.

Clinical Procedure: What to Expect

Patient Preparation

To ensure the highest accuracy and a smooth testing process at Chughtai Lab, patients should adhere to the following preparation guidelines:

• Gestational Age Verification: The Panorama test must only be performed at or after 9 weeks of gestation. An early dating ultrasound is highly recommended to confirm gestational age and determine if it is a singleton, twin, or higher-order multiple pregnancy.
• No Fasting Required: There is no requirement to fast before the blood draw. Patients are encouraged to eat normally and stay well-hydrated, as hydration can make venipuncture easier.
• Clinical Documentation: Patients must bring their latest ultrasound report, a prescription from their obstetrician, and complete the specialized Natera requisition form provided at Chughtai Lab. Accurate clinical history, including maternal weight, height, and IVF status (if applicable), is essential for precise risk calculation.
• Medication Review: Inform the healthcare provider if you are taking blood thinners (such as heparin or aspirin), as these can occasionally affect the concentration of cell-free DNA in the maternal blood.

During the Procedure

The collection process for the Panorama test with 22q11.2 deletion screening at Chughtai Lab is straightforward, safe, and minimally invasive:

• Venipuncture: A trained phlebotomist at Chughtai Lab will perform a standard blood draw, collecting two tubes of maternal blood from a vein in the arm.
• Specialized Collection Tubes: The blood is collected in proprietary Natera Streck tubes, which contain specialized preservatives designed to stabilize cell-free DNA and prevent maternal white blood cells from lysing during transit.
• Safety and Comfort: The procedure carries zero risk of miscarriage, unlike invasive diagnostic procedures such as amniocentesis or chorionic villus sampling (CVS). The entire blood draw takes less than 10 minutes.
• Cold Chain Logistics: Once collected, Chughtai Lab meticulously packages the samples in temperature-controlled transport kits. The samples are shipped via secure, expedited international courier to Natera’s CAP-accredited and CLIA-certified laboratory in San Carlos, California, USA, for advanced genomic sequencing.

When is a Panorama Test with 22q11.2 Performed?

Advanced Maternal Age (35 and older)

As women age, the risk of chromosomal nondisjunction events leading to trisomies (such as Down syndrome, Edwards syndrome, and Patau syndrome) increases significantly. Obstetricians frequently recommend the Panorama test to pregnant individuals aged 35 and older at the time of delivery to obtain a highly accurate, non-invasive assessment of these age-related genetic risks early in the pregnancy.

Abnormal First Trimester Screening Results

When routine first-trimester screening—such as the double marker biochemistries (PAPP-A and free beta-hCG) or nuchal translucency (NT) ultrasound—indicates an elevated risk for chromosomal abnormalities, the Panorama test is utilized as a highly sensitive secondary screening option. It helps clarify the risk profile before families proceed to invasive diagnostic procedures like amniocentesis.

Ultrasound Anomalies Suggestive of Genetic Conditions

If a routine prenatal ultrasound reveals soft markers or structural anomalies—such as congenital heart defects, renal abnormalities, or fetal growth restriction—physicians often request the Panorama test with 22q11.2 screening. This assists in identifying whether an underlying chromosomal aneuploidy or the 22q11.2 microdeletion is the primary cause of the observed anatomical variations.

Family History of Chromosomal or Microdeletion Disorders

Expectant parents who have a previous child, a relative, or a personal history of genetic disorders, particularly 22q11.2 deletion syndrome, are strongly advised to undergo this screening. Because microdeletions can sometimes be inherited in an autosomal dominant fashion from an asymptomatic or mildly affected parent, screening provides vital genetic clarity for the current pregnancy.

Parental Anxiety and Desire for Early Non-Invasive Reassurance

Many families choose the Panorama test simply for peace of mind. Because it can be performed as early as 9 weeks of gestation and boasts the lowest false-positive rate among NIPTs, it provides early, highly reliable reassurance regarding the genetic health of the fetus, allowing parents to plan their pregnancy journey with confidence and reduced anxiety.

What Does a Panorama Test with 22q11.2 Detect?

The Panorama test with 22q11.2 deletion screening is designed to detect a comprehensive spectrum of genetic conditions and clinical parameters, including:

• Trisomy 21 (Down Syndrome)
• Trisomy 18 (Edwards Syndrome)
• Trisomy 13 (Patau Syndrome)
• 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
• Monosomy X (Turner Syndrome)
• Klinefelter Syndrome (XXY)
• Triple X Syndrome (XXX)
• Jacob’s Syndrome (XYY)
• Triploidy (a rare condition where the fetus has three complete sets of chromosomes)
• Vanishing Twin Syndrome (detecting the genetic signature of a twin that demised early in pregnancy)
• Maternal Mosaicism (identifying maternal chromosomal variations that could affect test interpretation)
• Fetal Sex (optional determination of male or female fetal gender)
• Fetal Fraction (the percentage of cell-free DNA in the maternal blood that originates from the placenta)
• Twin Zygosity (determining whether twins are identical/monozygotic or fraternal/dizygotic)
• Individual Fetal Fractions in twin pregnancies (crucial for accurate risk assessment in multiples)
• Risk of fetal demise associated with triploidy
• Risk of severe congenital heart defects associated with 22q11.2 deletion
• Risk of palatal abnormalities (cleft lip/palate) linked to DiGeorge syndrome
• Risk of neonatal hypocalcemia associated with 22q11.2 deletion
• Risk of severe immunodeficiency and thymic hypoplasia
• Risk of developmental delays and learning disabilities
• Risk of renal anomalies associated with microdeletions
• Risk of growth hormone deficiencies and endocrine abnormalities

Turnaround Time and Report Access at Chughtai Lab

Because the Panorama test with 22q11.2 is an outsourced investigation, the maternal blood samples are safely transported to Natera’s specialized laboratory in the United States. The typical turnaround time for the final report is approximately 10 to 14 calendar days from the date of sample collection at Chughtai Lab. This timeframe accounts for international shipping, custom clearances, advanced next-generation sequencing, bioinformatics analysis, and clinical reporting by board-certified geneticists.

Once the results are finalized by Natera, they are securely transmitted back to Chughtai Lab. Patients and their referring obstetricians receive an automated SMS notification. The comprehensive report can be easily accessed and downloaded online via the official Chughtai Lab website or through the Chughtai Healthcare mobile application. Given the complex genetic nature of the findings, Chughtai Lab strongly advises patients to review the report in detail with their obstetrician or a qualified genetic counselor.

Panorama Test with 22q11.2 Findings Overview

Structure / Parameter Evaluated	Normal Findings	Possible Abnormal Findings
Trisomy 21 (Down Syndrome)	Low Risk (probability significantly less than 1 in 10,000)	High Risk (indicates a high probability of Down Syndrome)
Trisomy 18 (Edwards Syndrome)	Low Risk	High Risk (associated with severe structural anomalies)
Trisomy 13 (Patau Syndrome)	Low Risk	High Risk (associated with severe midline defects)
22q11.2 Deletion (DiGeorge)	Low Risk (no deletion detected)	High Risk (indicates presence of 22q11.2 microdeletion)
Sex Chromosome Aneuploidies	Normal XX (Female) or XY (Male) profile	Monosomy X, XXY, XYY, or XXX profiles
Triploidy	Not detected (Normal diploid state)	Triploidy detected (associated with severe placental/fetal issues)
Fetal Fraction	Adequate (typically 4% or higher)	Low Fetal Fraction (requires recollection or clinical review)
Zygosity (for Twins)	Monozygotic or Dizygotic clearly defined	Indeterminate zygosity or vanishing twin detected

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 Panorama Test with 22q11.2?

• Experienced Healthcare Professionals: Chughtai Lab employs highly trained phlebotomists skilled in specialized pediatric and maternal blood collection techniques.
• Patient-Focused Care: The lab provides a compassionate, supportive environment for expectant mothers during a crucial phase of their pregnancy.
• Quality Diagnostic Services: Chughtai Lab is one of Pakistan’s most trusted diagnostic networks, adhering to strict international quality control standards.
• Professional Reporting: Reports are delivered in a clear, structured format, making complex genetic data easy for clinicians to interpret.
• Modern Diagnostic Approach: By partnering with global leaders like Natera, Chughtai Lab brings advanced molecular diagnostics directly to Pakistan.
• Comfortable Environment: All collection centers are designed to ensure maximum patient comfort, hygiene, and safety.
• Convenient Location: With an extensive network of collection centers across major cities in Pakistan, accessing the test is highly convenient.
• Commitment to Accurate Diagnosis: Chughtai Lab ensures a seamless cold-chain logistics process, guaranteeing sample integrity from venipuncture to Natera’s facility.