Ashkenazi Jewish 25 Ashk Jew 25

Synonyms

Allscripts (AEHR) Order Name

Not Orderable

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

Clinical Info

Screens for carrier status of 25 inherited genetic conditions that occur frequently in those with Eastern European (Ashkenazi) Jewish ancestry.
All of the diseases included in the Ashkenazi Jewish panel are disorders inherited in an autosomal recessive ma

Specimen Type

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender top tube(s)
Specimen: Whole Blood 3 ml's
Transport Temperature: Refrigerated

Note:
Requires Ethnicity (required for interpretation)

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Genotyping by Next-generation sequencing (NGS)

Includes
TAY-Sachs DNA, Niemann Pick Type A+B, Mucolipidosis Type IV, Gaucher Carrier Screen, Fanconi Anemia, Type C, 

Canavan Disease, Bloom Syndrome, Familial Dysautonomia  Abetalipoproteinemia, Tyrosine Type 1,Nemaline Myopathy,

Hermansky-Pudlak, Familial Hypercholester, Galactosemia Carrier Screen, Wilson Disease Carrier, Spinal Muscular .Atrophy, 

Expanded Cystic Fibrosis Panel, Joubert Syndrome 2, Glycogen Storage Disease Type Ia, Usher Syndrome Type 1F, Usher Syndrome

Type 3, Maple Syrup Syndrome, Maple Syrup Urine Disease, Dihydrolipoamide, Walker-Warberg.

Days Performed

TAT: 11 - 16 Day

Performing Laboratory

BioReference Laboratories-GenPath

CPT

81412

PDM

1659849

Result Interpretation *

See Report

Forms

* Reference Ranges apply only to the Core Lab at 450 Lakeville Road.


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