Whole Exome Sequencing (WES) ek advanced genetic DNA test hai jo sharir ke Exome hisse ko analyze karta hai. Humare poore DNA ka lagbhag 1% se 2% hissa exome hota hai, lekin bimariyan paida karne wale lagbhag 85% genetic mutations isi hisse me paye jaate hain.

Whole Exome Test Se Kya-Kya Pata Chalta Hai?

1. Rare aur Undiagnosed Genetic Diseases

Jab kisi patient ko severe ya atypical symptoms hote hain aur baki routine tests (Blood test, MRI, Karyotyping) se disease confirm nahi hoti, tab WES se hidden genetic cause ka pata chalta hai.

2. Monogenic Disorders (Single Gene Mutations)

Kisi ek gene me kharabi ki wajah se hone wali bimariyon ki pehchan hoti hai, jaise:

Muscular Dystrophy (Muscle weakness)

Cystic Fibrosis

Thalassemia & Sickle Cell Anemia

Spinal Muscular Atrophy (SMA)

3. Neurodevelopmental & Pediatric Conditions

Bachhon me dekhi jane wali kai conditions ke genetic karan pata chalte hain:

Developmental delay (Umar ke hisab se vikas na hona)

Unexplained seizures (Mirgi ya daure)

Intellectual disability

Congenital anomalies (Janamjaat sharirik bikriti)

4. Inborn Errors of Metabolism (Metabolic Disorders)

Sharir ke chemical aur metabolic process se judi rare genetic bimariyan, jaha body proteins, fats, ya carbohydrates ko sahi se process nahi kar pati.

5. Carrier Status (Hereditary Risk)

Mata-pita me se koi kisi recessive genetic disorder ka carrier hai ya nahi, aur kya yeh bimari aane wale bachhe me pass ho sakti hai.

6. Cancer aur Heart Diseases ki Genetic Predisposition

Kuch hereditary cancers (jaise BRCA1/BRCA2 mutations) aur hereditary cardiomyopathies (dil ki bimariyan) ke risk genes ka pata chalta hai.

Clinical Fayde (Yeh Test Kyun Karwaya Jata Hai?)

Diagnostic Odyssey Khatam Hoti Hai: Patient ko baar-baar alag-alag chote tests karwane ke bajaye ek hi test se clarity mil jati hai.

Targeted Treatment: Treatment aur management plan sahi direction me start hota hai.

Family Planning & Genetic Counseling: Agli pregnancy me bimari repeat hone ke kitne percent chances hain, iska accurate risk assessment hota hai.

Iski Limitations Kya Hain?

Non-coding Regions (Introns): Yeh test DNA ke 98% non-coding part ko sequence nahi karta (uske liye Whole Genome Sequencing – WGS ki zarurat hoti hai).

VUS (Variants of Uncertain Significance): Kabhi-kabhi aisi genetic variations milti hain jinse disease ka connection filhaal medically proven nahi hota.

Non-genetic factors (lifestyle, infections, environmental causes) se hone wali bimariyan isme detect nahi hoti.