| Sr. No. | Disease | Metabolites studied by any other tech. | Metabolites studies by GC/MS |
|---|---|---|---|
| 1 | PKU | Phe | Phe; PA; PL; 2HPA; PPA |
| 2 | MSUD | Leu; Val | Leu; isoleu; Val; 2HIV; 3HIV; 2HIC |
| 3 | Homocystinuria | Met; Homocys | Met; Homocys; MMA |
| 4 | Tyrosinemia | Tyrosine | Tyrosine, 4HPL, succinylacetone, succinylacetoacetic acid, 4-HPA, N-acetyltyrosine |
The Navigene Technology Advantage
Navigene uses a revolutionary GC-MS Technology and Planar methodology for non invasive preventive screening and diagnosis of metabolic disorders and disturbances
Navigene offers most comprehensive metabolic screening test available in the world for the new born and the adults and is now also available in Hong Kong, Philipines, Indonesia, Singapore and a lot many other Asian countries under the brand name of Metascreen www.metascreen.org
Non Invasive
Requires urine samples on a special filter paper provided
Painless and hassle free process, sample can be collected at home
Easy logistics, does not required special storage and transport, can be stored and transported at room temperature.
Urine sample on filter paper is highly robust and analytically superior to blood and liquid urine sample.
Urine contains several end-products of metabolism (also called “metabolites or Biomarkers”). There are more than 3,000 detectable metabolites in human urine. Because our kidneys can efficiently remove unwanted or toxic metabolites from the blood, such compounds are excreted in large amounts in the urine, but may not be found in significant concentrations in blood initially. And hence Urine provides for a better sample for such analysis at pre-symptomatic stages.
The American College of Medical Genetics (ACMG) actually recommends urine organic analysis as the diagnostic step for many of the organic acidemias and amino acidemia, should there be a positive newborn screening result using the dried blood spot analyzed by tandem mass spectrometry (MS/MS).
Comprehensive and Customized
Detects 250+ markers to screen for 110 disorders through NBS 110 for the newborns.
Analysis’s more than 60 markers for the metabolic fingerprinting.
Newborn’s and Adult (metabolic profiling) samples are analyzed against India specific control values for the markers tested .
The cut off values are also customized for gender, ethnicity, region, geography etc.
Revolutionary Methodology
Gas Chromatography- Mass Spectrometry (GC-MS): highly sensitive and specific technology , and tests for 110 metabolic disorders with one sample.
GC-MS has been the GOLD STANDARD for diagnosis of organic academia (one of the most common group of disorders and the most critical ones) and for analyzing organic acids which comprise the majority of markers metabolites for metabolic profiling
The American College of Medical Genetics (ACMG) recommends GC-MS as the II tier test to diagnose the screen positive cases by MS-MS New born screen
To Detects marker compounds at a very low concentration in urine at a pre-symptomatic stage, and provides a confirmed diagnosis for the same as well.
To Highly sensitive Planar methodology which uses multiple analyze profiles to detect one single metabolic disorder to ensure high level of specificity of test result;
Comparison of Technology Platforms
| Key Features | Navigene GC-MS ( Next GenerationTech) | MS-MS ( Standard tech) |
|---|---|---|
| Sample required of Analysis |
|
|
| Disorders Covered | Comprehensive , Covers 110 disorders | Covers upto 45 disorders |
| Time to Diagnosis | Faster : Screening and confirmation in ONE STEP A GOLD STANDARD for Diagnosis of Organic academia since 1960 |
Slower : Two Step Process Screen Positive Follow up repeat test Still positive Confirmatory test Diagnosis |
| Accuracy of results | Consistent & Reliable: A very high positive predictive value, Highly sensitive & specific and hence recommended by ACMG for DIAGNOSIS of screen positive cases by MS-MS |
High false positives is a major issue that plagues MS-MS for years8 |
| Methodology used for Analysis | Planar Method used , Multiple markers per disorders PKU : Phe , PA , 2HPA, PL, PPA MSUD : Leu , Isoleu, Val, 2 HIV, 3HIV, 2HIC Unique picture leads to immediate and exact diagnosis |
Usually single marker analyzed per disorder , Non Specific PKU : Phe MSUD : Leu & Val disorders , and hence a more detailed analysis is required to pin point and confirm |
| Additional benefits | Differential Diagnosis of the disorders possible GC-MS can differentiate6between MMA & PA as it looks at multiple marker compounds and the markers for both differ in this analysis. |
Differential diagnosis not possible E.g Carnitine compound-C3 Acylcarnitine6 is elevated in both MMA and PA, hence differential diagnosis not possible and doing a GC-MS analysis is a must to differentiate |
| Interference | Chromatography separates potential interfering compounds, such as drugs and exogenous chemicals and hence no interference observed in GC-MS analysis with such compounds | Certain drugs and exogenous Chemicals can interfere with , detection of some acylcarnitines12 e.g. Valproic acid, cefotaxime, dectrose etc and hence the sensitivity/specificity goes down |
| Turn Around time | CMedium through put : Take 15-18 min per sample |
High through put : Takes a few min ~ 2 min per sample and hence feasible for mass screening |
Non-invasive