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Navigene now offers the entire range of Newborn Screening Test Packages with combinations of the superior technologies available in the industry. Note: These are indicative packages, the Doctor/Hospital/Clients can pick and choose any combination of disorfers as per the requirement in consultation with Navigene and we would be happt to customize the same for you.

Test Panel

Disorders Covered

Technology Used

Sample Required

MRP₹

BASIC SCREENING PANELS 1200

NBS 4

ELISA Add on to NBS 4 (Any combination of disorders can be picked) Hemoglobinopathy Screen (optional Add on)

Covers: 1. Sickle Cell Anaemia (Hb SS) 2. Sickle Cell Anaemia (Hb S/C) 3. Beta Thalassemia 4. Variant Hemoglobinopathies (C.D, H, Bart Band) Including Hb E

A heel Prick dried blood spot on the Guthrie card

HPLC

300 Each

1200

EXPANDED SCREENING

NBS 110

NBS 61

NBS 31

Most comprehensive New Born Screening package covering 110 disorders such as 1. Organic Acidmia 2. Fatty Acid oxidation disorders 3. Amino Acid Disorder 4. Sugar metabolism Defects 5. Purine, Pyrimidine Disorders 6. Peroxisomal Disorders Gas 7. Other common disorders like Galactosemia, Biotinidase, PKU etc Chromatographymass A Selection of 61 serious disorder affecting New born: Spectrometry 1. Package is a subset of NBS 110 (please refer to ther list disorder for details) (GC-MS) 2. Covers all disorders under NBS 50 (except a few Fatty acid oxidation defects like VLCAD)

5000

3500

Cover 31 most common & critical disorders affecting New born: 1. Package is a subset of NBS 110, 2. Disorders are carefully chosen in consultation with experts to include the most critical and life-threatening disorders affecting the new born very early in like

2800

Tandem Mass Spectrometry (TMS)

NBS 50

A heel Prick dried blood spot on the Guthrie card

3500

RECOMMENDED COMBINATION NBS PACKAGES Basic Screen (NBS 7)

ELISA

Essentional Screen (11 Disorders)

Basic Screen (NBS7) + Hemoglobinopathy Screen

ELISA + HPLC

Essentional Screen (61 Disorders)

Essential Screen + NBS 50 (TMS)

ELISA + HPLC + TMS

Comprehensive Screen ( Disorders)

Full Screen (118 Disorders)

NICU Screen (164 disorders)

A heel Prick dried blood spot on the Guthrie card

2100

3000 6800

NBS 31 + NBS 4 + Hemoglobinopathy screen 5200 The best possible screening package covering all possible disorders, making best use of blodd and urine samples and comination of all possible screening technologies in the single test, includes:

ELISA + HPLC + GCMS 7400

NBS 31 + NBS 4 + Hemoglobinopathy screen

NBS 110 (GCMS) + NBS 50 (TMS) + NBS 4

ELISA + GCMS + TMS

9700

Metabolic/Genetic investigation needed for screen positive cases or suspected metabolic disorders (NICU cases):

Sl. No

Test Name

1

Method

Sample Technology Requirement Used

TAT (Days)

MRP₹

Chemiliminescent Immunoassay

2 ml serum in SST, Ship refrigerated or frozen

2

1000

Radioimmunoassay

Early morning, 2 ml serum sample in SST, Ship refrigerated or frozen

2

1250

2

2500

2

17 Hydroxy progesterone (170HP)

3

17 Hydroxy progesterone Timed response (Stimulation by ATH)

Radioimmunoassay

2ml serum in SST, One each drawn at fasting in morning and 60 nib after ACTH adminiristration. Ship refrigerated or frozen

4

G6PD quantitative

Spectrophotometry

5 ml peripheral blood in EDTA

2

800

5

G6PD gene mutation

PCR

5 ml peripheral blood in EDTA

8

4500

6

Biotinidase Enzyme Assay

Enzyme assay

5 ml peripheral blood in EDTA purple

2

3000

7

Galactosemia Classical (Transferase) Quanitative Blood

Spectrophotometry

2

1750

8

Galactosemia (Epimerase) Quantitative Blood

Fluorometry

2

2250

9

Galactosemia Panel (Transferase + Epimerase)

Spectrophotometry + Fluorometry

2

4000

10

Galactosemia quanitative

Fluorometry

2

1500

11

Galactosemia (GALT) gene mutation

PCR-SEQUENCING

5 ml peripheral blood in EDTA

14

9500

12

Amino Acid Quantitative Blood 10 Amino Acids (10 Amino acids viz Alanine, Arginine, Citrulline, Glycine, Leucine, Methionine, Ornithine, Phenyalanine, Tyrosine, Valine)

MS-MS

Heel Prick Dried blood spot OR ml peripheral blood in EDTA

2

3750

5 ml peripheral blood in Sodium Heparin Green Top vaccutainer

13

LC-MS/MS

3

5000

14

LC-MS/MS

3

8000

4

6000

2

900

Spectrophotometry

3 ml whole blood in Sodium Fluoride tube. Mix blood with equal volume of 7% Perchloric Acid, centrifuge immediately. Separate supernatant and submit minimum 2 ml. Ship refrigerated or frozen.

3

3000

18

PCR-SEQUENCING

5 ml peripheral blood in EDTA

14

3000

19

PCR-SEQUENCING

5 ml peripheral blood in EDTA

14

9000

15

Non-Ketotic Hyperglycinemia Panel, Amino AcidQuantitative CSF & Plasma

LC-MS/MS

16

CSF Lactate

Spectrophotometry

17

Pyruvate; pyruvic acid

1 ml (0.5 ml min) CSF in a sterile screw capped vial AND 2 ml plasma in Green Top (Sodium Heparin) tube. Transfer plasma into a Sterile screw capped vial. Ship Refrigerated or frozen.

NAVIGENE ADVANTAGE: Technical: More than 30+ years of combined experience in Newborn screening. Best in class technologies used from the leading global manufacturers and the latest proprietary analytical systems. Newborn’s samples are analyzed against india centric Control Values customized further for gender, ethnicity & geography. Innovative technical processes to ensure lowest false positive rate.

Genetic Counselling: TELEGENETIC Counselling services are available remotely to patients with screen positive results through Tele-Call or Tele-Video, which will include: Explanation of test results. Evaluation of other genetic risks based on family history provided by the patient. A review of appropriate follow up testing options if applicable

Support Services:

Navigene is a NABL accredited laboratory Navigene has participated and consistently cleared several international quality assurance programs for the last 5-6 years. They are: - ERNDIM, United kingdom - NSQAP ( New Born Screening quality assurance program ) by CDC Atlanta, USA - preventive Medicine Foundation EQA, Taiwan

Navigene Genetic Science Pvt. Ltd. Mobile: +91-99671 17722 | E-mail: [email protected] | Website: www.navigene.in