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Maturity- Onset Diabetes of the Young (MODY) & Neonatal Diabetes Gene Panel

Details


Description

Inclusive Genes

ABCC8, AKT2, APPL1, BLK, CEL, CISD2, EIF2AK3, FOXP3, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KLF11, MNX1, NEUROD1, NKX2-2, NKX6-1, PAX4, PDX1, PTF1A, RFX6, SLC2A2, WFS1, ZFP57

Test Code: MGM033

Technique: Next Generation Sequencing

Sample: 3 ml. (2 ml. Minimum) Whole Blood in 1 EDTA (lavender top) tube.

Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid/ Dried Blood Spots (FTA Cards)/ Product of Conception (POC).

Sampling Instruction: Minimum 3ml of peripheral blood; minimum 1 microgram of DNA (concentration of 50-100ng/microliters); 300-500mg of CVS; Amniotic fluid of 15-20ml/T25 culture flask with 100% confluency For Dried Blood Spots (FTA Cards) - Maximum 125 l of the sample to be spotted per area of the card. Five full blood spots (circles) are required in order to run the test For Product of Conception (POC) - Fresh placental or fetal tissue (Min: 5 mg) submerged in stable transport media or sterile saline 1. In case of autopsy- skin or tissue from internal organs (if fresh) or placenta from fetal side. 2.If no autopsy is performed: Placenta from fetal side is preferred (e.g. villi) 3.n case of Placenta, maternal cell contamination to be ruled out. Maternal blood sample to be sent along for MCC testing Should NOT FREEZE. Should NOT be placed in formalin

Transportation Temperature: 20-25⁰C CVS at 2-8⁰C POC at 20-25⁰C/ Refrigerated.

Reported on: 30th working Day by 7:00 p.m. 

Precaution

No special preparation required

NRS. 30000 NRS. 35000

Available

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