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Department

Biochemistry

Preferred Sample Type

Leucocyte Enzymes (White cell enzymes - galactosidases, hexosaminidase, arylsulphatase etc)

Suitable Specimen Types

  • EDTA Whole Blood
10 mL

Specimen Transport

Send to Ref Lab lab immediately. Please send via roundrobin, courier or taxi. Do not send by first or second-class post

Sample Processing in Laboratory

Usual

Sample Preparation

Sample needs to reach Ref Lab within 24 hrs. Do not freeze or separate.

Turnaround Time

2 weeks

Sample Stability

Can be stored overnight at 4 ºC.

Do not freeze. Then send ASAP to Ref Lab

Leucocyte Enzymes (White cell enzymes - galactosidases, hexosaminidase, arylsulphatase etc)

General Information

The leucocyte enzymes can be requested individually to test for a specific disorder, or as part of one of the following profiles:

Hepatosplenomegaly

  • Leucocyte sphingomyelinase (Niemann-Pick A & B)
  • Leucocyte β-glucosidase (Gaucher’s disease)
  • Leucocyte acid esterase (Wolman’s disease & Cholesterol Ester Storage disease)
  • Plasma chitotriosidase (Non specific screen for some lysosomal disorders such as Gaucher’s disease and Niemann Pick C– screening test only).

Dysmorphy


    (See http://www.metbio.net/metbioGuidelines.asp for guidelines)
  • Plasma I-cell Screen (Mucolipidosis II & III)
  • Plasma aspartylglucosaminidase (Aspartyglucosaminuria)
  • Leucocyte arylsulphatase A (Multiple Sulphatase Deficiency)
  • Leucocyte β-glucuronidase (MPS VII)
  • Leucocyte β-galactosidase (GM1 gangliosidosis & galactocerebrosidosis)
  • Leucocyte α- & β-mannosidase (α- & β-mannosidosis), leucocyte α-fucosidase (α-fucosidosis)

Gangliosidosis


  • Leucocyte β-galactosidase (GM1 Gangliosidosis)
  • Leucocyte total hexosaminidase (Sandhoff’s disease)
  • Leucocyte hexosaminidase A (Tay-Sach’s disease).

Leukodystrophy


  • Leucocyte arylsulphatase A (metachromatic leucodystrophy)
  • Leucocyte β-galactocerebrosidase (Krabbe’s leucodystrophy).

Hydrops fetalis


    (See http://www.metbio.net/metbioGuidelines.asp for guidelines).
  • Leucocyte β-glucosidase (Gaucher’s Disease)
  • Leucocyte β-glucuronidase (MPS VII)
  • Leucocyte β-galactosidase (GM1 gangliosidosis & galactosialidosis)
  • Leucocyte sphingomyelinase
  • Leucocyte acid esterase
  • Leucocyte arylsulphatase A
  • Plasma chitotriosidase (Non specific screen for some lysosomal disorders such as Gaucher’s disease and Niemann Pick C – screening test only).

I-cell screen


  • Mucolipidoses II & III

Patient Preparation

None

Notes

Requests should be referred to the Duty Biochemist on Bleep 2506 prior to sample collection. Need to contact Birmingham Children's Hospital laboratory with full clinical details before collecting samples.

These assays are performed on leucocytes isolated from whole blood. For optimum yield of cells the sample needs to reach us within 24 hours of collection. The volume of blood required varies according to the number and type of tests requested. For these reasons it is important to contact the laboratory prior to taking the sample. Please do not use first or second-class post. Samples can be stored overnight at +4C - DO NOT FREEZE OR SEPARATE.

Reference Range

Provided by reference laboratory

Specifications

  • EQA Scheme?: Yes
  • EQA Status: ERNDIN

The laboratories at Heartlands Hospital, Good Hope Hospital and Solihull Hospital form part of the services provided by University Hospitals Birmingham and are UKAS (United Kingdom Accreditation Service) accredited to the ISO 15189:2012 standard. For a list of accredited tests and other information please visit the UKAS website using the following link: https://www.ukas.com/find-an-organisation/

  • Heartlands, Good Hope and Solihull Hospital pathology laboratories are a UKAS accredited medical laboratory No.8217
  • United Kingdom Health Security Agency laboratory is a UKAS accredited medical laboratory No.8213

Tests not appearing on the UKAS Schedule of Accreditation currently remain outside of our scope of accreditation. However, these tests have been validated to the same high standard as accredited tests and are performed by the same trained and competent staff.

For further test information, please visit the test database: http://www.heftpathology.com/frontpage/test-database.html.

Protection of personal information - Laboratory Medicine comply with the Trust Data Protection policy and have procedures in place to allow the Directorate and its employees to comply with the Data Protection act  1998 and associated best practice and guidance.

For further information contact Louise Fallon, Quality Manager, 0121 424 1235

UKAS HEFT