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XLID (X-Linked Intellectual Disability)

Additional Codes

MISC

Clinical System Name

XLID NextGen Panel

Synonyms

XLMR

Description

X-linked intellectual disability (XLID) involves a complex collection of clinically and genetically diverse disorders. Diagnosis of XLID is based on three main criteria: onset of symptoms before the age of 18, intellectual abilities significantly lower than average, and reduced adaptive skills. More than 200 conditions linked to >90 genes on the X chromosome include XLID as part of the clinical phenotype. Pathogenic mutations in these genes can represent the underlying cause of XLID, further accompanied by other congenital anomalies, developmental delay and autistic like features.  Approximately 42% of patients with XLID are anticipated to have mutations in one of 81+ clinically available genes.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 10 mL

Minimum Vol: 5 mL

 

 

 

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Deliver blood to Sendouts refrigerator rack. Store labels in the clear plastic box on front of the CPA fridge.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N  

 

Performing Laboratory

Contact Laboratory Genetic Counselor (labgc@seattlechildrens.org) to discuss testing options. Preffered laboratory is currently undefined.

Reference Range

Interpretive report is provided.

Methodology

Method:

Analytical Volume:

Limitations:

Send Out Instructions

Reference Test Name:  
Reference Test Number:  
Instructions: