X-linked hyper IgM immunodeficiency syndrome (XHIM-CD40LG)
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You can download the Test Requisition form (106k) in portable document format (.pdf).
About the Disorder | Indication | Specimen l Testing Methodology l Turnaround Time l Cost l CPT Codes l Shipping l Results l Contact Us
About the Disorder
X-linked hyper IgM syndrome typically presents as recurrent bacterial infections, such as otitis media, sinusitis, and pneumonias by age one year. Males with this condition often develop autoimmune hematologic disorders including neutropenia, thrombocytopenia, and hemolytic anemia. Other medical complications may include lymphomas and other malignancies, serious gastrointestinal complications, and neurologic deterioration. Elevated IgM , in the absence of other immunoglobulins is suggestive of this condition. X-linked hyper IgM syndrome is caused by a mutation in the CD40 ligand gene. The CD40 ligand gene maps to Xq26 and contains five exons and four introns. Single base mutations, small deletions, and insertions have been described in all exons.
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Indications
- Confirmation of diagnosis in an at-risk or symptomatic individual
- Carrier identification in females with a family history
- Prenatal diagnosis of an at-risk fetus, after identification of a mutation in a proband.
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Specimen
At least 3cc whole blood in purple top (EDTA) tube. Label tube with patient's name, birth date and date of collection. Buccal swabs are required for analysis in patients who have undergone transplantation and may facilitate DNA isolation in patients undergoing chemotherapy or in individuals with leukopenia. Please call for a free buccal swab collection kit.
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Testing Methodology
PCR-based sequencing of entire coding region and intron/exon boundaries of the CD40 ligand gene.
Sensitivity
Sequencing detects about 98% of mutations in the CD40LG gene in males. In females, test sensitivity is somewhat lower as PCR-based sequencing does not detect large deletions, insertions or rearrangements within a gene.
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Turnaround Time
1 month
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Cost
- Full gene mutation analysis
- Known mutation detection (by prior arrangement only)
Please call 513-636-7909 for current pricing.
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CPT Codes
83890, 83898 (x5), 83894 (x5), 83891 (x5), 83904 (x10), 83912
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Shipping Instructions
Please enclose test requisition with sample. All information must be completed before sample can be processed. The requisition is available as a pdf file at the top of this page. Place samples in Styrofoam mailer and ship at room temperature by overnight Federal Express to arrive Monday through Friday.
Ship to
Cytogenetics and Molecular Genetics Laboratories
3333 Burnet Avenue NRB 1042
Cincinnati, OH 45229
513-636-4474
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Results
Results will be reported to the referring physician or genetic counselor as specified on the requisition form.
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Contact Us
For additional inquiries, contact us:
Phone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
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