Table 2 Carrier frequency of the disorders screened

Total no. of carrier individuals

52

26

3.84

31.9

1

Cystic fibrosis - CFTR (219700)

9

4.5

22.22

8.3

2

Deafness - SCL26A4 (274600)

5

2.5

40.0

5

3

Deafness - GJB2 (220290)

3

1.5

66.67

4.3

4

Deafness - TMPRSS3 (601072)

3

1.5

66.67

4.3

5

GSD type II - GAA (232300)

3

1.5

66.67

4.3

6

Methyl malonicaciduria mut A – MMAA (251100)

2

1

100

3.6

7

AR polycystic kidney – PKHD1 (263200)

2

1

100

3.6

8

Galactosemia - GALT (230400)

2

1

100

3.6

9

Smith Lemli Opitz syndrome – DHCR7 (270400)

2

1

100

3.6

10

Albinism type II - OCA2 (203200)

2

1

100

3.6

11

Megalencephalic leukoencephalopathy with cysts -MLC1 (604004)

2

1

100

3.6

12

Gaucher disease - GBA (230800)

2

1

100

3.6

13

Phenylketonuria – PAH (261600)

2

1

100

3.6

14

Epidermolysis bullosa (Junctional) -LAMC2(226,700, 226,650)

2

1

100

3.6

15

Niemann Pick disease type C1 – NPC1 (257220)

1

0.5

200

2.77

16

Deafness - TMC1 (600974)

1

0.5

200

2.77

17

Biotinidase deficiency - BTD (253260)

1

0.5

200

2.77

18

Medium chain acyl CoA deficiency -ACADM (201450)

1

0.5

200

2.77

19

Limb girdle muscle dystrophy type 2A -CAPN3 (253600)

1

0.5

200

2.77

20

Congenital adrenal hyperplasia -CYP21A2(201910)

1

0.5

200

2.77

21

Primary hyperoxaluria type 1 - AGXT (259900)

1

0.5

200

2.77

22

Argininosuccinic aciduria - ASL (207900)

1

0.5

200

2.77

23

Canavan disease - ASPA (271900)

1

0.5

200

2.77

24

Glutaric aciduria type 1 – GCDH (231670)

1

0.5

200

2.77

25

Krabbe disease - GALC (245200)

1

0.5

200

2.77

26

Congenital ichthyosis - TGM1 (242300)

1

0.5

200

2.77

27

Metachromatic leukodystrophy – ARSA (250100)

1

0.5

200

2.77

28

Zellweger syndrome – PEX1 (214100)

1

0.5

200

2.77

29

Epidermolysis bullosa dystrophica – COL7A1 (226600)

1

0.5

200

2.77

30

Very long chain acyl CoA dehydrogenase deficiency - ACADVL (201475)

1

0.5

200

2.77