BGI NOVA™ Metabolic Disease Screening

BGI NOVA™ Metabolic Disease Screening

Introduction

BGI’s NOVA™ Metabolic Disease Screening Test determines a baby’s risk for 51 different metabolic disorders including metabolic disorders of amino acids, organic acidemias and fatty acid oxidation deficiencies.

BGI provides newborn testing for inherited metabolic disorders based on tandem mass spectrometry coupled to liquid chromatography (LC-MS/MS) and fluorescence analysis. It allows inexpensive and simultaneous detection of 51 different metabolic disorders from one dried blood spot specimen with fast and accurate results.

Many metabolic disorders are amenable to effective treatment upon timely diagnosis. Early detection and intervention can lead to favorable clinical outcomes.

  • SUITABLE FOR:

    Newborns suspected of having a metabolic abnormality

  • TA TIME:

    5 working days

  • SAMPLE:

    Blood spot

  • TECHNOLOGY:

    Tandem mass spectrometry , fluorescence analysis

Why Choose BGI NOVA™ Metabolic Disease Screening?

  • Fast – 5 working days from sample to genetic testing report
  • Comprehensive – simultaneous detection of 51 different metabolic disorders
  • Affordable – lower price for every family

 

Note: this test is considered a screening test, not a diagnostic test. Before making any treatment decisions, all patients/guardians should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate. This testing service has not been cleared or approved by the US FDA and is not available in the USA.

Conditions Screened

Newborn Inherited Metabolic Disorders

51

Metabolic Disorders of Amino Acid

21

Organic Acidemias

12

Fatty Acid oxidation Deficiency

15

Hormone regulation

2

glycometabolism

1

Workflow

Ordering BGI NOVA™ Metabolic Disease Screening is easy.

  • STEP 1

    Physician orders test

  • STEP 2

    Blood or saliva sample collected

  • STEP 3

    Sample shipped to BGI and analyzed

  • STEP 4

    Results sent to physician

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