| OMIM# | 607155 |
| Gen | FKRP (19q13.3). |
| Inheritance | Autosomal recessive. |
| Mutations | Analysis for the mutation p.Leu276Ile, frequently seen on LGMD type 2I. Other mutation can be seen. |
| Specimen | 7,5 ml blood in EDTA-glass. |
| Analysis | PCR and restriction enzyme cleavage for p.Leu276Ile. Sequencing of the rest of the gene. Mutation in the same gene can cause congenital muscular dystrophy. |
| Delivery | Mail. Monday to Friday. |
| Turn around time | p.Leu276Ile: 6 weeks. Sequencing: 6 months. |
| Prenatal diagnosis | Only by prior arrangement. Contact attending doctor. |