Alpha-Globin Gene Sequencing
Test Catalog Information
| Test Catalog Synonyms | |
| EPIC Synonyms | ALPHAGSEQ |
| Cerner Primary Mnemonic | Alpha-Globin Gene Sequencing |
| EPIC Display Name | Alpha-Globin Gene Sequencing |
| Allscripts (AEHR) Order Name | Alpha-Globulin Gene Sequencing |
| Sunrise Clinical Manager (SCM) Order Name | Alpha-Globin Gene Sequencing |
| EPIC Inpatient Orderable | Yes |
| EPIC Outpatient Orderable | Yes |
| Cerner Results |
Alpha-Globin Gene Sequencing |
| Clinical Info |
1. To identify disease-causing mutations in individuals affected with alpha-Thalassemia. 2. To identify carriers in high risk ethnic groups or people with a positive family history. 3. Prenatal diagnosis of alpha-Thalassemia. |
| Specimen Type | |
| Container |
Lavender Top Tube |
| Collection Instructions |
Container/Tube: Lavender top tube Alternate Specimen(s): Whole blood collected in: Sodium heparin (green-top), lithium heparin (green-top) or ACD solution B (yellow-top) • Amniotic fluid • Cultured cells • Chorionic villus sampling Specimen: 5 mL whole blood (3 mL min) Transport Temperature: Room Temperature Collection Instructions Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. Amniotic fluid (acceptable): 20 mL (min 5 mL) temperature only specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze. Amniotic culture (acceptable): Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze. Dissected chorionic villi (CVS) biopsy (acceptable): 10-20 mg dissected CVS collected in sterile tube filled with sterile culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze. Provide family history; For prenatal diagnosis with a fetal specimen: 1) Parents must be documented carriers of one of the mutations tested 2) Maternal blood or DNA must be available 3) Contact the laboratory genetic counselor before submission Provide clinical information (MCV, blood work, age, alpha globin mutations detected, ethnicity). |
| Transport Instructions |
Room Temperature |
| Specimen Stability |
Whole Blood (preferred) 30 Days Room Temperature or Refrigerated All other samples 2 Days -Room Temperature only Unacceptable Refrigerated or Frozen |
| Methodology |
DNA Sequencing • Polymerase Chain Reaction (PCR) |
| Days Performed |
TAT: 3-4 Weeks |
| Performing Laboratory |
Quest Diagnostics' Nichols Institute, Inc. - Chantilly |
| CPT |
81259 |
| PDM |
1959552 |
Desired Epic Build Alpha-Globin Gene Sequencing
| Cerner Primary Mnemonic: | Alpha-Globin Gene Sequencing | ||||||
| PDM | 1959552 | ||||||
| Informatics - Workgroup | Hematology | ||||||
| Synonyms * | ALPHAGSEQ | ||||||
| Display Name * | Alpha-Globin Gene Sequencing | ||||||
| Order Entry Specimen Sources * | |||||||
| Order Entry Specimen Types |
Blood
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| Specimen Navigator Specimen Types | |||||||
| Specimen Navigator Specimen Sources | |||||||
| Specimen Navigator Short Name | |||||||
| Ordering info (EPIC SmartText) | 1. To identify disease-causing mutations in individuals affected with alpha-Thalassemia. 2. To identify carriers in high risk ethnic groups or people with a positive family history. 3. Prenatal diagnosis of alpha-Thalassemia. | ||||||
| IP Orderable | Yes | ||||||
| OP Orderable | Yes | ||||||
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AOEs * | |||||||
| AP AOEs | |||||||
| Special History | No | ||||||
| Build Comments | |||||||
| Filter * | genetics | ||||||
| Procedure Category Change | |||||||
Cerner Results
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Actual Epic build
| Procedure Id | 115443 | ||||||||||||||||||||||||
| Pdm | 1959552 | ||||||||||||||||||||||||
| Order Display Name | Alpha-Globin Gene Sequencing | ||||||||||||||||||||||||
| Procedure Name | ALPHA-GLOBIN GENE SEQUENCING | ||||||||||||||||||||||||
| Procedure Master Number | LAB11564 | ||||||||||||||||||||||||
| Short Procedure Name | ALPHA-GLOBIN GENE SEQUENCING | ||||||||||||||||||||||||
| Category Code | 15.0 | ||||||||||||||||||||||||
| Category Code Record Name | LAB CYTOGENETICS ORDERABLES | ||||||||||||||||||||||||
| Synonyms | ALPHAGSEQ | ||||||||||||||||||||||||
| Clinically Active | Yes | ||||||||||||||||||||||||
| Orderable | Yes | ||||||||||||||||||||||||
| Performable | Yes | ||||||||||||||||||||||||
| Filter Genomics | Generic Genomics Procedure | ||||||||||||||||||||||||
| Reference Link Url | https://labs.northwell.edu/epic/test/115443 | ||||||||||||||||||||||||
| Ordering Instructions | |||||||||||||||||||||||||
| Default Specimen Type | Blood | ||||||||||||||||||||||||
| Specimen Type Pick List | Blood | ||||||||||||||||||||||||
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| Specimen Source Pick List | Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous | ||||||||||||||||||||||||
| Specimen Source Default - Male | |||||||||||||||||||||||||
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| Ip Lab Test Components For Report | |||||||||||||||||||||||||
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| Order Questions | ["3045300170", "3045300171", "3045300173"] | ||||||||||||||||||||||||
| Order Questions Record Name | NH IP HOME COLLECT DATE NH IP HOME COLLECT DAYS NH IP HOME COLLECT MEDICALLY NECESSARY | ||||||||||||||||||||||||
| Inpatient Order Questions | ["3048500000"] | ||||||||||||||||||||||||
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| Order Specific Question Override | Yes | ||||||||||||||||||||||||
| Inpatient Question Override | |||||||||||||||||||||||||
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| Edp Amb Order Specific Questions Record Name | NH IP PATIENT COMPLETED CONSENT | ||||||||||||||||||||||||
| Edp Ip Order Specific Questions Record Name | NH IP PATIENT COMPLETED CONSENT | ||||||||||||||||||||||||
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| Ip Orderable | 1 | ||||||||||||||||||||||||
| Op Orderable | 1 | ||||||||||||||||||||||||
EPIC OP AOEs
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EPIC IP AOEs
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EPIC Components (results)
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