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Table 1 The results of laboratory investigations of the child

From: Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis

 

Patient’s value

Reference range

Laboratory test

 Hemoglobin

10.8 gm/dL

Males (12–18 years): 13–16gm/dl

 MCV

62.8

77–95fL

 MCH

19.2

25–33 pg

 MCHC

30.6

31–37gm/dL

 RDW

15.9

11.5–15%

Kidney function tests

 BUN

7.6

7.3–21 mg/dL

 Urea

16.26

15.62–44.94 mg/dL

 Uric acid

4.8

2.6–5.8 mg/dL

 Sodium

137

138–145 mg/dL

 Potassium

4.3

3.4–4.7 mg/dL

 Calcium

9.7

8.4–10.2 mg/dL

 Phosphorus

4.9

4–7 mg/dL

 Chloride

105

98–107 mg/dL

 Urine-specific gravity

1.020

1.005–1.030

Liver function tests

 Serum total bilirubin

0.6

0.2–1.2 mg/dL

 SGPT/ALT

277

Up to 55U/L

 SGOT/AST

252

5–34U/L

 ALP

149.27

42–362U/L

 Gamma GT

82

12–62U/L

 Serum total protein

8.42

6–8gm/dL

 Albumin

4.48

3.8–5.4gm/dL

 Globulin

3.94

2.6–3.7gm/dL

Endocrine profile

 Fasting glucose

92

70–99 mg/dL

 HbA1c

5.3

 

 Free T3

141

93–231 ng/dL

 Free T4

12.93

5.99–13.8 µg/dL

 TSH

5.75

0.6–4.84 µIU/mL

 Serum LH

0.21

1.5–9.3 mIU/mL

 Serum testosterone

0.2

0.65–19.29 nmol/L

Lipid profile

 Serum total cholesterol

221

 < 200 mg/dL

 Serum triglycerides

310

 < 150 mg/dL

 HDL

30

 > 60 mg/dL

 LDL

159

 < 100 mg/dL

 VLDL

62

 < 30 mg/dL

Urine tests

 Proteins

NIL

NIL

 Glucose

NIL

NIL

 Bile pigments

NIL

NIL

 Occult blood

NIL

NIL

Hemoglobin variant analysis

 Hb A

93.9

96–98%

 Hb F

4.8

2.3–3.5%

Others

 Serum IGF-1

54.2

133–471 ng/mL

 Serum IgG

18.8

6.5–16.2 g/L