Nova Meditech Metabolic Diseases Laboratory

Panel of Investigations for Inborn Errors of Metabolism

IEM FAQ | IEM Panel | Our IEM Experience - 100 cases

Requisition form for Metabolic Screen

Neonatal/Paediatric/Adult Screening

The test panel at our laboratory is constituted by 3 stages, all of which finally lead to a reliable and confirmed diagnosis.

Cost: Rs. 400 for urinary screening only; Rs. 1250 for urine and blood screening

Sample required: 15 – 20 ml urine and / or 5 ml EDTA blood

Collection of urine specimen: One urine void at mid -day; three samples void at the start of the day.

Collect in separate bottles and label clearly.

What does it infer?

The results of the screen can be used as a preliminary step for the management of a neonate / child. The stage comprises of assays, which are qualitative and semi-quantitative and can thus infer the abnormally high metabolite excretion (in urine) or its concentration in the blood.

The report will consist of details of further work up suggested with respect to the case, necessary for the confirmation of a suspected disorder as understood by the screening report. A special section with details of any emergency measures to be taken would also appear in the report wherever relevant. This is to aid the clinician in better management of the case.

Cost: Rs. 1500 to Rs. 3000

Sample required: 5 ml EDTA blood; 20 ml urine (One void mid–day, one void early morning)

What does it infer?

The report of this stage is performed as a confirmatory test based on the reports of the screening. Specific enzyme assays as required by the case will be performed and the activity of the enzyme determined for accurate interpretation and to provide complete support to the clinician responsible for the case. Micro quantitation of the abnormal metabolites shall also be performed at the request of the clinician or wherever considered relevant. Suitable dietary restrictions, wherever applicable, will be advised in the report, the decision of the clinician being the final.

Cost: Rs. 1500

What is its significance?

Scientifically designed diet prescriptions, taking care not to compromise the RDA for a growing child will be provided to the parents through their clinicians. This is of utmost significance in cases where restriction of the offending metabolite is known to ameliorate symptoms as evidenced by numerous cases earlier. Case relevant follow up studies will also be suggested.

Prenatal Screening

The prenatal screening panel helps people whose families have a known previous history of metabolic disorders. The purpose of the panel is to help women with high-risk pregnancies and provide the couple with facts about continuing pregnancy and the associated risks.

Tests offered:

1. Chromosomal analysis from Chorionic villi , Amniotic fluid, Cord Blood

Cost: Rs. 500 to Rs. 2000.

Sample:

• 25 mg of chorionic villi tissue in specified media (provided on request).

• 20 ml amniotic fluid in sterile tubes.

• 3 ml heparinised blood.

Requisition form for Metabolic Screen