Institute of Human Genetics

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Biochemical Genetics

Indications

  • Growth failure, failure to thrive, weight loss
  • Ambiguous genitalia, delayed puberty, precocious puberty
  • Developmental delay, seizures, dementia, encephalopathy, stroke
  • Deafness, blindness, pain agnosia
  • Skin rash, abnormal pigmentation, lack of pigmentation, excessive hair growth, lumps and bumps
  • Dental abnormalities
  • Immunodeficiency, thrombocytopenia, anemia, splenomegaly, enlarged lymph nodes
  • Many forms of cancer
  • Recurrent vomiting, diarrhea, abdominal pain
  • Excessive urination, renal failure, dehydration, edema
  • Hypotension, heart failure, enlarged heart, hypertension, myocardial infarction
  • Hepatomegaly, jaundice, liver failure
  • Unusual facial features, congenital malformations
  • Excessive breathing (hyperventilation), respiratory failure
  • Abnormal behavior, depression, psychosis
  • Joint pain, muscle weakness, cramps

Investigation List


Sr. No.

INVESTIGATION & DISEASE

Sample Type

Collection

Turn Around Time

1

Ammonia

Plasma

K3 EDTA plasma (2 ml)

1 day

2

Galactose-1-Phosphate-Uridyl Transferase

Peripheral Blood

K3 EDTA vaccute (5 ml)

2 days

3

Galactose-Dehydrogenase
( Galactosemia)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 day

4

Lactate

Plasma

K3 EDTA plasma (2 ml)

1 day

5

Lactate/Pyruvate/Amonia
(For Pyru.Decarboxylase Def. Type A & B Mitochondrial Dis.

Plasma

K3 EDTA plasma (2 ml)

1 day

6

Plasma Amino acids Profile

Plasma

K3 EDTA plasma (3 ml)

3 weeks

7

Prenatal Diagnosis of Glutaric Acidemia

Amniotic Fluid, Chorionic Villus

AF: Sterile container (20ml)

CV: Sterile container with transport medium (30 mg)

4 weeks

8

Pyruvatte

Plasma

K3 EDTA plasma (2 ml)

1 day

9

Smith Lemy Optiz Syndrome Screening (7DHC)

Plasma

K3 EDTA plasma (2 ml)

3-4 days

10

Tendom Mass Spectroscopy (TMS) (Blood Spot)

Dried blood spot on filter paper

Dried blood spot on filter paper

5-6 days

11

Tendom Mass Spectroscopy (TMS) (Blood Spot) (FS+MS/MS)

Dried blood spot on filter paper

Dried blood spot on filter paper

5-6 days

12

Urine for GC/MS

Urine

Urine in sterile container (15 ml)

10 days

13

Urine For Metabolic disorders

Urine

Urine in sterile container (15 ml)

2 days

14

Urine for MPS Study (GAG Quantitative)

Urine

Urine in sterile container (15 ml)

2 days

15

Urine for MPS Spot only

Urine

Urine in sterile container  (2 ml)

1 day

16

Urine for MPS Study GAG & Qualitative by electrophoresis)

Urine

Urine in sterile container (15 ml)

5-6 days

17

Urine For oligosaccahride by TLC

Urine

Urine in sterile container (15 ml)

2 days

18

VLCFA for Adrenoleukodystrophy (ALD)

Plasma

K3 EDTA plasma (2 ml)

3 weeks