Gene dosage and expression analysis
Research Genetic test
Help
offered by
GTR Test Accession: Help GTR000508938.8
INHERITED DISEASEDYSMORPHOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2021-08-17
Last annual review date for the lab: 2022-08-09 Past due LinkOut
At a Glance
Smith-Magenis syndrome; Autism spectrum disorder; Chromosome 2q23.1 deletion syndrome; ...
2-pyrrolidinone; 3-methoxytyramine; 3-methoxytyrosine or 3-O-methyldopa; 5-Hydroxyindole-3-acetic acid; Vanillylmandelic acid
17p11.2; 2q23.1; 2q37.3
Genes (5): Help
HDAC4 (2q37.3), MBD5 (2q23.1), RAI1 (17p11.2), TCF20 (22q13.2), TCF4 (18q21.2)
To more fully describe and to understand the genes and …
Currently open
Must contact Dr. Elsea for approval prior to sending samples.
Biochemical Genetics - Analyte: Tandem mass spectrometry (MS/MS); ...
Study Description
Name: Help
MOLECULAR AND CLINICAL ANALYSIS OF SYNDROMIC REGIONS OF THE GENOME
Study short name: Help
Genomic Disorders
Protocol number: Help
BCM H32494
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
To more fully describe and to understand the genes and pathways affected in neurodevelopmental disorders associated with a genomic abnormality (deletion or duplications). These include Smith-Magenis syndrome, TCF20-associated neurodevelopmental disorder, Potocki-Lupski syndrome, MBD5-associated neurodevelopmental disorders, and HDAC4 related neurodevelopmental disorder, among others.
Study type: Help
Not applicable
Offered by: Help
Elsea Laboratory
Person responsible for the study: Help
Sarah Elsea, PhD, Lab Director
Study contact: Help
Sarah Elsea, PhD, Lab Director
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Must contact Dr. Elsea for approval prior to sending samples.
Consent form: Help
Not provided
Conditions Help
Total conditions: 11
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 5
Analyte Associated Condition
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 3
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 4
Method Category Help
Test method Help
Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
Protein expression
immunohistochemistry
RNA analysis
Gene expression profiling
RNA analysis
RT-qPCR
* Instrument: Not provided
Technical Information
Test Procedure: Help
Downstream gene and protein expression analyses. Protein turnover.
Recommended fields not provided:
Additional Information

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