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Sickle cell anaemia is an inherited blood disorder, with ~50% of the global cases arising in India. The condition is caused by a faulty "sickle gene" which is inherited in autosomal recessive mode- a single copy of this gene causes sickle cell trait (benign) and two copies cause sickle cell anaemia.(Haemoglobinopathies/Blood disorders)

MTHFR gene polymorphisms

MTHFR gene codes for the enzyme methylenetetrahydrofolate reductase which is involved in the process of breaking down the amino acid homocysteine.

Target variant

677T>C and 1298A>C mutations

MTHFR Ex5f, MTHFR Ex5r, MTHFR Ex8f, MTHFR Ex8r

Sample type:

  1. Molecular analysis : 2 ml of blood in an EDTA vacutainer (purple cap) collected aseptically.
  2. Prenatal Diagnosis : Chorionic villus sample (30-40 mg) or Amniotic fluid (20-30 ml ) or Purified DNA ( 2-3micro micrograms ) or Fetal chord blood sample ( 1-2 ml).

Transportation :

The samples may be sent at room temperature within 48 hrs from the sample collection time.

TAT:

7-10 Days

Note :

TRF + Form G + Form F + Clinical history*

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