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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)

Cystic fibrosis

About :

Cystic fibrosis (CF) is a genetic disorder that causes problems with breathing and digestion. People with CF have mucus that is sticky and too thick, which blocks airways and leads to lung damage, traps germs and makes infections more likely and prevents proteins needed for digestion from reaching the intestines, which decreases the individual's ability to absorb nutrients from food.

Cystic fibrosis results from mutations in the CFTR gene which has instructions for making the CFTR protein. To get affected with CF both the CFTR genes should have mutations. Doctors recommend CF screening test as soon as the birth as a part of newborn screening.

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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