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SALSA MLPA Probemix P179 Limb malformations-1

Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; ROR2-related Robinow syndrome; Synpolydactyly (SPD); Brachydactyly type E1 (BDE1); Brachydactyly type B1 (BDB1)

Region: GLI3 7p14.1; HOXD13 2q31.1; ROR2 9q22.31

General Information: The SALSA MLPA Probemix P179 Limb malformations-1 is a research use only (RUO) assay for the detection of deletions or duplications in the GLI3, HOXD13 and ROR2 genes, which are associated with limb malformations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome and Robinow syndrome.

The GLI3 gene encodes a protein that belongs to the C2H2-type zinc finger proteins. Defects in the GLI3 gene cause a wide variety of phenotypes, including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome.
The HOXD13 gene encodes a transcription factor and is involved in distal limb patterning. Four types of HOXD13 mutations are associated with distinct phenotypes. Expansions in the amino-terminal polyalanine tract cause synpolydactyly (SPD), specific missense mutations cause brachydactyly type E, intragenic deletions or other missense mutations cause SPD with an additional foot phenotype, while a splice site mutation has been reported to cause only foot malformation.
The ROR2 gene encodes a transmembrane receptor tyrosine kinase, which is particularly important for the chondrocyte lineage. Mutations in ROR2 have been shown to result in brachydactyly type B, and in autosomal recessive Robinow syndrome.

More information is available at https://ghr.nlm.nih.gov/gene/GLI3, https://ghr.nlm.nih.gov/gene/HOXD13 and https://ghr.nlm.nih.gov/gene/ROR2.

Probemix content: The SALSA MLPA Probemix P179-B1 Limb malformations-1 contains 43 MLPA probes with amplification products between 130 and 463 nucleotides (nt). This includes 21 probes for the GLI3 gene, two for the HOXD13 gene and ten for the ROR2 gene. In addition, ten reference probes are included detecting 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, 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.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P179-025R
SALSA MLPA Probemix P179 Limb malformations-1 – 25 rxn
€ 243.00
P179-050R
SALSA MLPA Probemix P179 Limb malformations-1 – 50 rxn
€ 486.00
P179-100R
SALSA MLPA Probemix P179 Limb malformations-1 – 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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