loader
Find a Test

Zellweger syndrome, NGS

Order Code
1724398
CPT
81406
Test Details
Synonyms

Metabolic Disorders Panel

TAT

21 days

Methodology

Next Generation Sequencing

Remarks

Genelist (33): ABCD1, ABCD3, ACAA1, ACBD5, ACOX1, AGPS, AGXT, AMACR, CAT, DNM1L, DYM, EBP, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT, TRIM37

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

Genetic diagnosis of Zellweger syndrome; family counseling and clinical management.

Specimen Type

Peripheral Blood

Volume

5-7 mL whole blood OR DNA ≥ 100 µL

Specimen Container

Lavender-top (EDTA) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Refrigerated 7 days
Order Code
1724398
CPT
81406
Test Details
Synonyms

Metabolic Disorders Panel

TAT

21 days

Methodology

Next Generation Sequencing

Remarks

Genelist (33): ABCD1, ABCD3, ACAA1, ACBD5, ACOX1, AGPS, AGXT, AMACR, CAT, DNM1L, DYM, EBP, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT, TRIM37

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

Genetic diagnosis of Zellweger syndrome; family counseling and clinical management.

Specimen Type

Peripheral Blood

Volume

5-7 mL whole blood OR DNA ≥ 100 µL

Specimen Container

Lavender-top (EDTA) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Refrigerated 7 days