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Hypolactasia, adult type (main mutations)

Gastroenterology 06.006

Hypolactasia, adult type (main mutations)

LCT

Signs/symptoms: Lactase activity low
Complications: Primary Lactase Intolerance
Early diagnosis/treatment: Yes

Material required:

Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: Yes
Chromosomal localization: 2q21 OMIM number: 223100

Lactase Deficiency (main mutation in the promoter -13910, homozygous)

LCT

Gene regions tested:

Gene regions: promoter
Amino acid positions:
Nucleotide positions: -13910 T<C
Test methods: Sequencing

Prices:

Switzerland:

8820.00 8811.01 8819.01 8810.21
  TP REVAL: 200 TP Value: 0.9 CHF 180.00
Other europe: EUR 150.00
Other regions: USD call

References:

Enattah NS, Sahi T, Savilahti E, terwilliger JD, Peltonen L, Jarvela I: identification of a variant associated with adult-tpe hypolactasia. Nature Genet. 2002;30:233-237.

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