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SALSA MLPA Probemix P319 Thyroid

Thyroid dysgenesis; Hypothyroidism, congenital; Thyroid dyshormonogenesis 2A; NKX2-1-related disorders; Susceptibility to nonmedullary thyroid cancer-4 (NMTC4); Bamforth-Lazarus syndrome

Region: TPO 2p25.3; PAX8 2q13; FOXE1 9q22.33; NKX2-1 14q13.3; TSHR 14q31.1

General Information: The SALSA MLPA Probemix P319 Thyroid is a research use only (RUO) assay for the detection of deletions or duplications in the TPO, PAX8, FOXE1, NKX2-1 and TSHR genes. Thyroid dysgenesis (TD) accounts for most cases of congenital hypothyroidism. TD is generally a sporadic disease, but in about 5% of the cases a genetic origin has been demonstrated. In these cases, mutations in genes playing a role during thyroid morphogenesis (PAX8, FOXE1, NKX2-1, TSHR) have been reported.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK279032/

Probemix content: The SALSA MLPA Probemix P319-B1 Thyroid contains 49 MLPA probes with amplification products between 127 and 481 nt.

The TPO gene (17 exons) spans ~129 kb of genomic DNA and is located on 2p25.3, ~1.4 Mb from the p-telomere. This probemix contains one probe for each exon of the TPO gene (two probes for exon 8) with the exception of exon 2 and 3.

The PAX8 gene (10 exons) spans ~63 kb of genomic DNA and is located on 2q14.1, ~113 Mb from the p-telomere. This probemix contains one probe for each exon of the PAX8 gene (two probes for exon 1) with the exception of exon 3 and 6.

The FOXE1 gene (1 exon) spans ~3.5 kb of genomic DNA and is located on 9q2233, ~98 Mb from the p-telomere. This probemix contains two probes for FOXE1.

The NKX2-1 gene (3 exons) spans ~4 kb of genomic DNA and is located on 14q13.3, ~37 Mb from the p-telomere. This probemix contains probes for each exon of the NKX2-1 gene.

The TSHR gene (10 exons) spans ~191 kb of genomic DNA and is located on 14q31.1, ~81 Mb from the p-telomere. This probemix contains one probe for each exon of the TSHR gene.

In addition, nine reference probes are included in this probemix, detecting nine different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P319-025R
SALSA MLPA Probemix P319 Thyroid – 25 rxn
€ 243.00
P319-050R
SALSA MLPA Probemix P319 Thyroid – 50 rxn
€ 486.00
P319-100R
SALSA MLPA Probemix P319 Thyroid – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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