PGTEST-M

The PGTEST-M test is a pre-embryo transfer genetic screening test for 10 common monogenic recessive diseases.

- The PGTEST-M test helps couples to select non-carrying/disease-carrying embryos to transfer into the mother's uterus to eliminate genetic mutations that cause disease in the next generation.

- Target users are usually couples who carry mutations on one or more of the 10 genes listed in the description of IVF to select embryos that do not carry disease or do not carry mutations for embryo transfer.

LIST OF 10 COMMON SINGLE-GENE RECESSIVE DISEASES

The PGTEST-M test only works with mutations in the genes in the panel that are inherited from the Father/Mother.

STT	DISEASE	GENE
1	Glucose-6-phosphate dehydrogenase	G6PD
2	Phenylketonuria	PAH
3	Citrin deficiency	SLC25A13
4	Wilson disease	ATP7B
5	Pompe disease	GAA
6	Cystic fibrosis	CFTR
7	Fabry disease	GLA
8	Galactosemia	GALT
9	Congenital hearing loss	GJB2
10	Adrenoleukodystrophy	ABCD1

TESTING PROCEDURE AT GENTIS

Sample Type:

+ Biopsied blastocyst samples or WGA products.

+ Reference sample: blood.

Technology:

+ Directly identify mutations on embryos (for point/indel mutations below

5nu).

+ Analyze genetic association using SNPs located close to the 2 sides of the mutation to be investigated.

Time to return results:

+ 30 days (excluding public holidays).

Note:

- Reference form:

+ Compulsory reference sample: Sample of the biological parents of the Embryo: 2-3ml of whole blood in an EDTA anticoagulant tube (with information on genetic test results).

+ 3rd reference sample: Sample of existing child(s) of the couple wanting to do PGT-M: 2-3ml of whole blood in an EDTA tube.

+ Additional reference sample: in some cases may require additional samples of the embryo's grandparents: 2-3ml of whole blood in an EDTA anticoagulant tube.

At least a parent's sample is required.