Nova Meditech Metabolic Diseases Laboratory

If you have queries or a case to discuss, contact aravindarao@yahoo.com 

In the last two and a half years, Nova Meditech Laboratory has carved a niche for itself in quality and ethical laboratory practice. Being the first laboratory in this part of the country to introduce the marvels of medical technology like the polymerase chain reaction etc. for the benefit of common people, the laboratory has won accolades from medical professionals and patients alike. And at the dawn of the new millennium, we are proud to present the following innovative and path breaking facilities at Mangalore:

1. Tests to diagnose inborn errors of metabolism
2. Tests for Phosphatidyl glycerol and LS Ratio in amniotic fluid to assess the foetal lung maturity
3. Tests for amino acids in amniotic fluid to assess the protein status of mother and foetus.

Inborn Errors of Metabolism (IEM):

            More than 500 inborn errors of metabolism (IEM) have been identified and the cumulative incidence is estimated at 1 in 5000 births. Many of the IEMs are inherited as autosomal recessive traits. Single gene defects result in abnormalities in the synthesis or catabolism of proteins, fats or carbohydrates and the effects are due to toxic accumulations of substrates before the block or intermediates from alternative metabolic pathways etc. They can manifest at any time, even in adulthood. Diagnosis requires a high index of suspicion and an understanding of the broad clinical manifestations of IEM.

            The clinical manifestations of IEM are non-specific and therefore IEM may be lurking behind any of the following manifestations: Sepsis, poor feeding, failure to thrive, vomiting, diarrhoea, tachypnea/apnea, bradycardia, abnormal muscle tone, temperature instability, irritability, critically ill neonate, siezures, altered sensorium, involuntary movements/ posturing, unexplained/sudden infant deaths in siblings, delayed milestones, skeletal abnormalities, abnormalities of skin/hair, dysmorphic/ coarse features, ataxia, premature cataracts, organomegaly, lethargy, coma, hepatoencephalopathy, neurologic problems, psychiatric problems, abnormal odour, jaundice/liver dysfunction, autism, learning disorders, behavioural disturbances, hallucinations/delirium, aggressiveness/agitation, anxiety/panic attacks, dizziness, exercise intolerance, muscle weakness, paraparesis, abdominal pain, migraine-like head aches etc.

Screening of new born babies for IEM is mandatory in US and other developed countries. Now at Nova we are proud to offer you the facilities for screening and subsequent full work up of IEMs.

WE SCREEN FOR / DIAGNOSE

General Neonatal Screening
Aminoacidurias / Aminoacidemias
FructosuriaHereditary Fructose intolerance
Galactosemia
Lactose intolerance
Organic acidemias
Mucopolysaccharidoses
Porphyrias
Urea Cycle disorders
Purine / Pyrimidine metabolism disorders
Vitamin Deficiency states

Requisition form for Metabolic Screen