General information
The SALSA MLPA Probemix P319 Thyroid is a research use only (RUO) assay for the detection of deletions or duplications in TPO, PAX8, FOXE1, NKX2-1 and TSHR genes, which are associated with thyroid dysgenesis.

Thyroid dysgenesis (TD) accounts for most cases of congenital hypothyroidism. TD is generally a sporadic disease and in most cases the cause is unknown. Occasional familial occurrence and a difference in prevalence of TD between males vs. females, between ethnicities, and in patients with Down syndrome all suggest genetic factors may play a role in some patients. Mutations in genes playing a role during thyroid morphogenesis (TPO, PAX8, FOXE1, NKX2-1, TSHR amongst others) have been reported.

The TPO gene (17 exons) spans ~129 kb of genomic DNA and is located on 2p25.3, ~1.4 Mb from the p-telomere. The PAX8 gene (10 exons) spans ~63 kb of genomic DNA and is located on 2q13, ~114 Mb from the p-telomere. The FOXE1 gene (1 exon) spans ~4 kb of genomic DNA and is located on 9q22.33, ~100 Mb from the p-telomere. The NKX2-1 gene (3 exons) spans ~4 kb of genomic DNA and is located on 14q13.3, ~36 Mb from the p-telomere. The TSHR gene (10 exons) spans ~191 kb of genomic DNA and is located on 14q31.1, ~81 Mb from the p-telomere.

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

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P319-B2 Thyroid contains 50 MLPA probes with amplification products between 127 and 481 nucleotides (nt). This includes 16 probes for the TPO gene (one probe for each exon with the exception of exon 2 and 3, and two probes for exon 8), nine probes for the PAX8 gene (one probe for each exon with the exception of exon 3 and 6, and two probes for exon 1), two probes for the FOXE1 gene, three probes for the NKX2-1 gene (one probe for each exon) and ten probes for the TSHR gene (one probe for each exon). In addition, ten reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.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, and 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.mrcholland.com.