| Cerner Primary Mnemonic: | XomeDx Plus-Duo |
| PDM | 255200 |
| Informatics - Workgroup | Flow/Mol/Cytog - No Subgroup |
| Synonyms * | |
| Display Name * | XomeDx (Whole Exome Sequence + mtDNA) Plus-Duo |
| Specimen Sources (combined Order Entry and Specimen Navigator) * |
Blood, Arterial
Blood, Capillary
Blood, Central Line
Blood, Venous
|
| Specimen Types (combined Order Entry and Specimen Navigator) * |
Blood
|
| Body Fluids (types sent through AOEs) |
|
| Specimen Navigator Specimen Types |
|
| Specimen Navigator Specimen Sources |
|
| Specimen Navigator Short Name | |
| Ordering info (EPIC SmartText) | XomeDx, or whole exome sequencing (WES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual. The XomeDx test is different from other types of genetic diagnostic tests in terms of the number of genes that are sequenced simultaneously. The XomeDx test targets the protein-coding regions of the human genome, which represents ~20,000 genes and accounts for approximately ~2% of all human genetic material.Determination of a clinical diagnosis Identification of gene implicated in genetic disease
This is a DUO test which includes the Patient and Parent to be drawn and submitted for testing.Indicate Patient, Mother, Father on specimens.DO NOT label parents with child labelsGeneDx Code 561e + 561m |
| IP Orderable (inpatient) | Yes |
| OP Orderable (outpatient) | Yes |
AOEs *
|
| AP AOEs | |
| Special History | No |
| Build Comments | |
| Filter * | |
| Cerner Site Restrict | Ambry Genetics Laboratory
Gene DX Laboratory
Mayo Medical Labs
Medtox Laboratories |
Cerner Results
| Result Desc |
Result display |
Result PDM |
| Exome Genome |
EXOME |
255200A |
|
| PROCEDURE ID |
193914 |
| PDM |
255200 |
| ORDER DISPLAY NAME |
XomeDx (Whole Exome Sequence + mtDNA) Plus-Duo |
| PROCEDURE NAME |
XOMEDX PLUS-DUO |
| PROCEDURE MASTER NUMBER |
LAB14607 |
| SHORT PROCEDURE NAME |
XOMEDX PLUS-DUO |
| CATEGORY CODE |
21.0 |
| CATEGORY CODE RECORD NAME |
LAB MOLECULAR DIAGNOSTICS ORDERABLES |
| SYNONYMS |
WES PLUS DUO |
| CLINICALLY ACTIVE |
Yes |
| ORDERABLE |
Yes |
| PERFORMABLE |
Yes |
| FILTER GENOMICS |
|
| REFERENCE LINK URL |
https://labs.northwell.edu/epic/test/193914 |
| ORDERING INSTRUCTIONS |
|
| DEFAULT SPECIMEN TYPE |
Blood |
| SPECIMEN TYPE PICK LIST |
Blood |
| SPECIMEN TYPE LIST |
Blood |
| OP SPECIMEN TYPE LIST |
|
| SPECIMEN SOURCE PICK LIST |
Blood, Arterial
Blood, Capillary
Blood, Central Line
Blood, Venous |
| SPECIMEN SOURCE DEFAULT - MALE |
Blood, Venous |
| SPECIMEN SOURCE DEFAULT - FEMALE |
Blood, Venous |
| SPECIMEN SOURCE LIST |
Blood, Venous |
| OP SPECIMEN SOURCE LIST |
|
| IP LAB TEST COMPONENTS FOR REPORT |
EXOMEGENOME
SPECAPPEAR
VARIANTINFO |
| OP LAB TEST COMPONENTS FOR REPORT |
EXOMEGENOME
SPECAPPEAR
VARIANTINFO |
| ORDER QUESTIONS |
["3045300170", "3045300171", "3045300173", "3046700918", "3045900001", "3045900002", "3045900004", "3045900006", "3045900008"] |
| ORDER QUESTIONS RECORD NAME |
NH IP HOME COLLECT DATE
NH IP HOME COLLECT DAYS
NH IP HOME COLLECT MEDICALLY NECESSARY
NH IP XOMEDX
NH IP LAB PATIENT ACMG
NH IP LAB RELATIVE 1 ACMG
NH IP LAB RELATIVE 1 NAME
NH IP LAB RELATIVE 1 DOB
NH IP LAB RELATIVE 1 RELATIONSHIP |
| INPATIENT ORDER QUESTIONS |
["3046700918", "3045900001", "3045900002", "3045900004", "3045900006", "3045900008", "3048500000"] |
| INPATIENT ORDER QUESTIONS RECORD NAME |
NH IP XOMEDX
NH IP LAB PATIENT ACMG
NH IP LAB RELATIVE 1 ACMG
NH IP LAB RELATIVE 1 NAME
NH IP LAB RELATIVE 1 DOB
NH IP LAB RELATIVE 1 RELATIONSHIP |
| ORDER SPECIFIC QUESTION OVERRIDE |
Yes |
| INPATIENT QUESTION OVERRIDE |
|
| LOCATION RESTRICT LIST IP |
|
| LOCATION RESTRICT LIST IP RECORD NAME |
|
| LOCATION RESTRICT LIST INCLUDE IP |
|
| LOCATION RESTRICT LIST OP |
|
| LOCATION RESTRICT LIST OP RECORD NAME |
|
| LOCATION RESTRICT LIST INCLUDES OP |
|
| EDP AMB ORDER SPECIFIC QUESTIONS RECORD NAME |
NH IP PATIENT COMPLETED CONSENT |
| EDP IP ORDER SPECIFIC QUESTIONS RECORD NAME |
NH IP PATIENT COMPLETED CONSENT |
| EDP IP SPECIMEN SOURCE |
|
| EDP OP SPECIMEN SOURCE |
|
| EDP IP SPECIMEN TYPE |
|
| EDP OP SPECIMEN TYPE |
|
| DERIVED EDP IP BUTTONS S |
|
| DERIVED EDP IP BUTTONS T |
|
| DERIVED EDP OP BUTTONS S |
|
| DERIVED EDP OP BUTTONS T |
|
| IP ORDERABLE |
1 |
| OP ORDERABLE |
1 |
| STANDARD LAB COMPONENTS |
|
| STANDARD LAB COMPONENTS RECORD NAME |
|
| COMPONENT DATA REQUIREMENT |
|
EPIC OP AOEs
| Question ID | Question Name | Question | Response Type | Response List | Require Response |
|---|
| 3045300170 |
NH IP HOME COLLECT DATE |
Start Date |
Date |
|
Yes |
| 3045300171 |
NH IP HOME COLLECT DAYS |
Days |
Custom List |
Monday
Tuesday
Wednesday
Thursday
Friday
Saturday
Sunday |
Yes |
| 3045300173 |
NH IP HOME COLLECT MEDICALLY NECESSARY |
Medically Necessary? |
Yes/No |
|
Yes |
| 3045900001 |
NH IP LAB PATIENT ACMG |
Does the patient want to receive ACMG secondary findings? |
Yes/No |
|
Yes |
| 3045900002 |
NH IP LAB RELATIVE 1 ACMG |
Relative 1 ACMG findings preference: |
Yes/No |
|
Yes |
| 3045900004 |
NH IP LAB RELATIVE 1 NAME |
Relative 1 name (first and last): |
Free Text |
|
Yes |
| 3045900006 |
NH IP LAB RELATIVE 1 DOB |
Relative 1 DOB: |
Date |
|
Yes |
| 3045900008 |
NH IP LAB RELATIVE 1 RELATIONSHIP |
Relative 1 relationship to proband: |
Custom List |
Mother
Father
Sibling
Other |
Yes |
| 3046700918 |
NH IP XOMEDX |
Add Mitochondrial Seq & Del testing? |
Yes/No |
|
Yes |
|
EPIC IP AOEs
| Question ID | Question Name | Question | Response Type | Response List | Require Response |
|---|
| 3045900001 |
NH IP LAB PATIENT ACMG |
Does the patient want to receive ACMG secondary findings? |
Yes/No |
|
Yes |
| 3045900002 |
NH IP LAB RELATIVE 1 ACMG |
Relative 1 ACMG findings preference: |
Yes/No |
|
Yes |
| 3045900004 |
NH IP LAB RELATIVE 1 NAME |
Relative 1 name (first and last): |
Free Text |
|
Yes |
| 3045900006 |
NH IP LAB RELATIVE 1 DOB |
Relative 1 DOB: |
Date |
|
Yes |
| 3045900008 |
NH IP LAB RELATIVE 1 RELATIONSHIP |
Relative 1 relationship to proband: |
Custom List |
Mother
Father
Sibling
Other |
Yes |
| 3046700918 |
NH IP XOMEDX |
Add Mitochondrial Seq & Del testing? |
Yes/No |
|
Yes |
| 3048500000 |
NH IP PATIENT COMPLETED CONSENT |
Patient completed consent? |
Yes/No |
|
Yes |
|
EPIC Components (results - crosswalked through Cerner)
| Component ID | Component Name | Base Name | Common Name | External Name | Cerner Result PDM |
|---|
| 3047808423.0 |
EXOME GENOME |
EXOMEGENOME |
EXOME GENOME |
Exome Genome |
255200A |
|
