Central precocious puberty (pubertas praecox)

KISS1R - central precocious puberty type 1

This test is available for the following conditions:

• Conditions > Endocrine > Central precocious puberty (pubertas praecox)

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Mendelian inherited disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

OMIM: 604161
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MKRN3 - central precocious puberty type 2

This test is available for the following conditions:

• Conditions > Endocrine > Central precocious puberty (pubertas praecox)

This product is also part of the following panels:

• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Mendelian inherited disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 603856
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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