MOLECULAR STUDY HYDATIDIFORM MOLE, RECURRENT , NALP7 GENE, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4189

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Familial recurrent hydatidiform mole is characterized by recurrent pregnancies with complete hydatidiform moles development of biparental, rather than the more usual androgenetic, origin. In most families the gene responsible, NALP7, is located in a 1.1 Mb region on chromosome 19q13.4. Mutations in this gene result in dysregulation of imprinting in the female germ line with abnormal development of both embryonic and extraembryonic tissue.
Links:
OMIM Entry - # 231090 - HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1
OMIM Entry - # 614293 - HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2
OMIM Entry - - 609661 - NLR FAMILY, PYRIN DOMAIN-CONTAINING 7; NLRP7

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