Newborn Screening

Newborn screening is the practice of testing every baby born  in their first days of life for certain genetic conditions that can hinder normal development and can cause serious health problems in infancy or childhood. Early detection and treatment can help prevent intellectual and physical disabilities and life-threatening illnesses. GeneTech’s new born screening offers flexible, simple and quick tests with actionable results for selected common metabolic disorders.  Our Extended New born screening that identifies risk for more than 100 disorders is an excellent screening program specially for sick babies in ICU. GeneTech also offers follow up confirmatory molecular tests for all screen positive new born screening results.

Newborn Screening is best done within 2 days after birth and after at least one to two feeds. It can be done up to one month of new born age. Sample collection is simple using heel prick method with 2 to 3 blood drops collected on filter paper provided by GeneTech.

Newborn Screening Heel Prick Blood Sample Collection Procedure

  1. Select the most medial or lateral portions of the plantar surface heel of the infant.
  2. Sterilize the site and puncture with and automated or sterilize lancet.
  3. Wipe off the first drop of blood with a sterile gauze swab.
  4. Obtain second large drop of blood and apply it on the center of the circle on the filter paper provided by GeneTech. Allow it to absorb evenly without any overlaps.
  5. Repeat the same procedure for filling other circles completely and allow the blood spots to be air dried [3-4hrs] completely at room temperature.
  6. GeneTech’s collection card must be totally dry before being placed in an envelope for transportation to the lab.

Newborn Screening

S.No Test Name TAT (Days)
1 17 OHP (CAH) Newborn Screening 7
2 Biotinidase Newborn Screening 7
3 Cystic Fibrosis Screening 7
4 Thyroid Newborn Screening 7
5 G6PD Newborn Screening 7
6 Galactosemia Newborn Screening 7
7 Phenylketonuria Newborn Screening 7
8 Routine Newborn Screening 4 disorders 7
9 Routine Newborn screening 5 disorders 7
10 Routine Newborn Screening 7 disorders 7
11 Tandem Mass Spectrophotometry 7
12 Extended Newborn Screening + Tandem Mass 7
13 GCMS Panel on Urine 7
14 Qualitative Aminoacid Profile 7
15 Quantitative Amnioacid Profile 7
16 Urine Organic Acid Profile 7
17 Urine Organic Acid Profile Quantitative 7

Sample Collection:
3 Drops of Heel Prick Blood of newborn on filter paper
Urine in sterile container
Transport within 48 hrs at room temperature