Lissencephaly 2 (Norman-Roberts type), 257320, Autosomal recessive; LIS2 (Lissencephaly syndrome, … see more Lissencephaly 2 (Norman-Roberts type), 257320, Autosomal recessive; LIS2 (Lissencephaly syndrome, Norman-Roberts type) (RELN gene) (Sequence Analysis-All Coding Exons) (Prenatal)  see less
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000582821.1
IMMUNOLOGYINHERITED DISEASECARDIOVASCULAR ... View more
Last updated in GTR: 2020-05-19
Last annual review date for the lab: 2022-05-14 Past due LinkOut
At a Glance
Diagnosis
Norman-Roberts syndrome
Genes (1): Help
RELN (7q22.1)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Lissencephaly 2 (diagnosis/ clinical suspition/ etiology investigation/ classification)
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
8859
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Lissencephaly 2 (diagnosis/ clinical suspition/ etiology investigation/ classification)
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity of this method was reported as 99,9996%. This value may change in some special DNA regions
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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