Table 4 Mutation Detection Rates in Models of Genetic Screening for Familial Hypercholesterolemia

Netherlands

1994

16

Cascade

43891

-

36%

Direct sequencing of promoter and all exons of LDLR and exons 26 and 29 of apoB; MLPA for large deletions

N/A

[66]

-

-

Patient screening

-

1465

44%

Stepwise screening approach for LDLR and apoB

The Dutch Criteria

[75]

Norway

2003

5

Cascade

1805

-

44.8%

Direct sequencing of promoter and exons 1-17 and coding part of exon 18 of the LDLR and of codon 3500-containing PCR fragment of the apoB gene; MLPA for large deletions

N/A

[67],[68]

Iceland

2003

N/A

Systematic family screening

68

-

59%

Screened for the common LDLR Icelandic mutation (I4T +2C) only

N/A

[80]

Denmark

-

-

Patient screening

-

1053

40.4%

Two out of three:

[76]

Stepwise screening approach for LDLR and apoB

(i) Elevated LDL-C

1995

8

Patient screening

-

408

33.1%

(ii) Premature CAD or family history of CVD;

(iii) Presence of xanthomas

[77]

Spain

2004

3

Patient screening

-

825

55.6%

Lipochip (Microarray that includes 203 LDLR and 4 ApoB mutations)

Elevated familial LDL-C with or without familial or personal histories of premature CAD or xanthomas

[69, 70]

UK

2005

-

Patient screening

-

635

36.5%

Definite or probable FH

[74]

Commercial amplification refractory mutation system (ARMS) for 18

LDLR, one apoB and one PCSK9 mutations

Cascade

296

-

56.1%

N/A

New Zealand

2004

4

Patient screening

-

588

13%

Elevated LDL-C, lipid stigmata, or family history of premature CVD

[72, 78, 79]

Denaturing High Performance Liquid Chromatography (DHPLC) and melting analysis with direct sequencing to look for mutations in LDLR and apoB

Cascade

353

-

45%

N/A