Ashkenazi Jewish Mutation Analysis Panel (Sendout)

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General Information

Lab Name
Lab Code
386
External Test Id
64005, 64000
Description

Useful For: Reproductive carrier screening. This test assesses carrier status for hereditary genetic disorders caused by pathogenic/likely pathogenic variants to identify potential risks of having a child with a genetic condition. Disorders included in the GeneAware™ reproductive carrier screen generally focus on diseases with severe consequences during a child's early life and/or diseases that may be treatable if detected early. The Ashkenazi Jewish panel includes the 37 disorders (male panel) or 39 disorders (female panel) that most commonly occur in individuals of Ashkenazi Jewish descent.

Ordering Requirements: Provider must submit a completed Baylor Genetics GeneAware Requisition with the order (scan to Media tab in patient's chart or send with patient for blood collection).

Forms & Requisitions
Synonyms
64000, 64005, ABCC8, ADAMTS2, AJ Panel, ASPA, ATP7B, BBS2, BCKDHB, BLM, Bloom Syndrome, Canavan Syndrome, CFTR, COL4A3, CPT2, CRLN1, DHCR7, DHDDS, DLD, DMD, ELP1, FAH, Familial Dysautonomia, FANCC, FANCC-related Fanconi anemia, FKTN, FMR1, G6PC1, GALT, Gaucher disease, GBA, HEXA, MCOLN1, MPL, MTTP, Mucolipidosis type IV, NEB, Niemann-Pick types A and B, PCDH15, PEX2, PHGDH, PKHD1, PMM2, RTEL1, SLC35A3, SMN1, SMPD1, SUMF1, Tay-Sachs disease, TMEM216

Interpretation

Method

Next-generation sequencing (NGS)

Reflex Testing:
If the CFTR R117H variant is detected, reflex testing of the polythymidine variations (5T, 7T and 9T) at the intron 9 (legacy intron number 8) branch/acceptor site of the CFTR gene will be performed. The polythymidine variations (5T, 7T and 9T) are analyzed by Sanger sequencing.

Sanger Sequencing:
A PCR-based assay is used to amplify the region(s) of interest in the gene. Direct sequence analysis of PCR products is performed in both the forward and reverse directions using automated fluorescence dideoxy sequencing methods.

Fragile X (Female Panel Only):
The CGG repeat region at the FMR1 5’-untranslated region is amplified by fluorescent PCR followed by capillary electrophoresis. Allele sizes up to 200 repeats are analyzed by GeneMapper software. Reflex Southern blot analysis will be performed for samples with full mutation allele in order to assess size and methylation status for larger repeats. This analysis does not detect deletions or point mutations, which comprises less than one percent of the FMR1 pathogenic variants.

Spinal Muscular Atrophy:
The total combined copy number of SMN1 and SMN2 exon 7 is quantified based on NGS read depth. The ratio of SMN1 to SMN2 is calculated based on the read-depth of a single nucleotide that distinguishes these two genes in exon 7. In addition to copy number analysis, testing for the presence of absence of a single nucleotide polymorphism (g.27134T>G in intron 7 of SMN1) associated with the presence of a SMN1 duplication allele is performed using NGS.

Ref. Range Notes

An intepretive report will be provided.

Ordering & Collection

Specimen Type
Whole Blood
Collection

10 mL blood LAVENDER (EDTA) top tube

Forms & Requisitions
Handling Instructions

Outside Laboratories:

  • Store and transport whole blood at ambient temperature.
  • Submit with a completed Baylor GeneAware requisition.
  • Samples must arrive at Baylor within 7 days of collection (allow for transport time from UW-MT lab to Baylor).

Stability: Ambient: 7 days; Refrigerated: Not preferred; Frozen: Unacceptable.

Quantity
requested: 10 mL EDTA whole blood
minimum: 10 mL EDTA whole blood

Processing

Processing

Store and transport whole blood at ambient temperature.

Login: GSEND1-;ROOM TEMP

  • GSNDT1: BAYMIR
  • GSTYP1: WB
  • GTSRQ1:<select appropriate test name below>
    • Gene Aware Ashkenazi Jewish Panel, Female (Baylor Test 64000)
    • Gene Aware Ashkenazi Jewish Panel, Male (Baylor Test 64005)

Sendouts:

  • Order Baylor Test 64000 (Female) or 64005 (Male).
  • Include the completed Baylor requisition.
  • Specimens must be received by Baylor within 7 days of collection.

Stability: Ambient: 7 days; Refrigerated: Not preferred; Frozen: Unacceptable.

Performance

LIS Dept Code
Performing Location(s)
Sendout Baylor Miraca Genetics Laboratories, LLC
800-411-4363

2450 Holcombe Blvd.
Houston, TX 77021
Frequency
Expected Turnaround Time: 14 days.
Available STAT?
No

Billing & Coding

CPT codes
Billing Comments

CPT: 81412

LOINC