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Nx GEN WHOLE EXOME SEQUENCING Test in Agra

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    Test Recommended For:

    N/A

  • Report Frequency :

    Sample Daily by 9 am; Report 14 Working days

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  • parameter icon

    Parameters :

    1

  • ₹ 31910
    ₹ 30630
Special Instruction :
For Postnatal Specimens: Duly filled Nx Gen Sequencing (NGS) Test Requisition Form (Form 40) is mandatory. For Prenatal Specimens: Duly filled Prenatal Genetic Testing Consent Form (Form 60) is mandatory. Samples shall be accepted only from registered genetics clinics under PCPNDT Act

Overview

Every cell in your body carries a complete copy of your DNA that spell out the instructions for life. Only about one to two percent of that DNA, a section called the exome, contains the direct recipes for making proteins: the workhorses that keep your organs functioning, your immune system active, and your body growing normally. When a 'spelling mistake' appears in one of these recipes, it can disrupt how a protein is made and cause illness. Whole Exome Sequencing (WES) reads every one of these protein-coding sections, approximately 20,000 genes to pinpoint exactly where such a mistake may lie. WES efficiently narrows the search without sequencing the entire genome. Finding the genetic cause of an illness early makes an enormous difference. It can replace years of inconclusive tests with a clear diagnosis, open the door to targeted treatments or clinical trials, and help other family members understand their own risk before symptoms appear. For children born with birth defects or developmental challenges, an early answer means earlier, better-matched support and care. Doctors typically recommend WES for individuals with unexplained medical conditions, intellectual or developmental delay, multiple congenital differences, suspected rare genetic syndromes, or a family history pointing to an inherited disorder. It is also used when couples experience recurrent pregnancy loss and a genetic cause is suspected.

Parameters

Doctor Information

Code

Pre-test Information

For Postnatal Specimens: Duly filled Nx Gen Sequencing (NGS) Test Requisition Form (Form 40) is mandatory. For Prenatal Specimens: Duly filled Prenatal Genetic Testing Consent Form (Form 60) is mandatory. Samples shall be accepted only from registered genetics clinics under PCPNDT Act

Code

Report Delivery

Sample Daily by 9 am; Report 14 Working days

Code

Code

N807

Category

Category

Genetic Disorders

Stability Room

Stability Room

6 hrs

Stability Refrigerated

Stability Refrigerated

72 hrs

Stability Frozen

Stability Frozen

NA

Method

Method

NGS

Specimen

Usage

Whole exome sequencing (WES) is a genetic test to identify heritable cause of a disorder. WES searches through all the coding regions of the gene (exome) to identify variants. Human exome represents less than 2% of the genome but contains 85% of known disease related variants. This test is useful for the genetic analysis when patient presents with mutations in several genes which may have similar clinical presentation eg. neuropathies, ataxia, muscular disorders, skin disorders & thrombocytopenia. It is also useful when phenotype is atypical or combination of symptoms does not provide a definite diagnosis. Prenatal and Postnatal nature of Genetic conditions can be detected through sampling of various body tissues/fluids (whole blood, POC, AF, CVS etc.) for extracting genomic DNA.

Specimen

Specimen

Postnatal Specimens: 10 mL (5 mL min.) Whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled NGS Test Requisition Form (Form 40) is mandatory OR submit Placenta / Fascia lata / Diaphragm / Tendon / Skin / Tissue from internal organs / Chest wall cartilage etc. in Normal saline OR 4 mL (2 mL min.) Umbilical Cord Blood in 1 Lavender top (EDTA) tube OR Products of Conception AND 4 mL Maternal Whole blood in 1 Lavender Top (EDTA) tube. Prenatal specimens: 15 mL (10 mL min.) Amniotic fluid in a sterile screw capped container OR 30 mg (20 mg min.) Chorionic Villus biopsy collected aseptically in 10 mL transport medium available from LPL AND 4 mL Maternal Whole blood in 1 Lavender Top (EDTA) tube. Avoid clot formation during sampling. Ship refrigerated within 24 hrs. DO NOT FREEZE. Duly filled Prenatal Genetic Testing Consent Form (Form 60) is mandatory. Samples shall be accepted only from registered genetics clinics under PCPNDT Act.

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