Table 2 Biochemical investigations of the proband

From: Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Investigations

Value

Reference range

Haemoglobin

7.5 g/dL

11–14 g/dL

White blood cells

3.1 × 103/ul

5–15 × 103ul

Red blood cells

3.20 × 103/ul

4–5.10 × 103/ul

Platelets

128 × 103/ul

200–490 × 103/ul

Serum ferritin

47.7 ng/ml

13–400 ng/ml

Serum parathyroid hormone

23.8 pg/ml

18.4–80.1 pg/ml

Vitamin B12

725 pgm/ml

197–771 pgm/ml

Calcium

9.45 mg%

8.3–10.4 mg%

25-OH Vitamin D

17.01 ng/mL

20–32 ng/mL

Alkaline phosphatase

160 U/L

40–125 U/L

Creatinine

0.33 mg%

0.5–1.4 mg%

Back to article page