Lab Guide 2019 Metabolic Section Lab Guide
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1 Lab Guide 2019 Metabolic Section Lab Guide
2 Quantitative Amino acids Plasma Plasma. Container/Tube: Preferred EDTA, Place immediately in ice. Acceptable: lithium heparin, sodium heparin. Patient preparation: Fasting (overnight preferred, 4 hours minimum). Infants should be drawn just before next feeding (2-3 hours without TPN if possible). Cold. Send specimen immediately to Central Processing area 24/7 at HGH or to Metabolic lab directly only from Sunday -Thursday 7:00 AM - 03:00 PM. Lab Note: Centrifuge Immediately or within 4 hours if specimen is stored at refrigerated temperature. Aliquot plasma and store frozen; If plasma is transferred to another tube the secondary container must be labeled with at least 2 identifiers (Patient s name, HC number), preferably laboratory CIS barcode Number sticker. Sunday to Thursday 7:00 AM - 03:00 PM. 4 working days. Liquid chromatography-tandem mass spectrometry (LC-MS/MS). Age Groups Amino Acid s (umol/l) < > or =18 Months Years Years Taurine Asparagine Serine Hydroxyproline Glycine Glutamine Aspartic Acid 2-20 <11 <7 Histidine Threonine Citrulline Alanine Glutamic Acid Argininosuccinic Acid (Asa) <2 <2 <2 Arginine Proline Ornithine Cystine Lysine Methionine Valine Tyrosine Isoleucine Leucine Phenylalanine Tryptophan Alloisoleucine <2 <3 <5 When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, and recommendations for additional testing. Inadequate patient identification information (HC& Name). Sample not sent in ice. Gross hemolysis. Clotted blood sample. Sample collected in Wrong tube. Samples from adults with no specific indication.
3 Quantitative Amino acids CSF CSF Container/Tube: Sterile CSF Container. Place in ice immediately. Volume: ml. Cold. Send specimen immediately to Central Processing area 24/7 at HGH or to Metabolic lab directly from Sunday -Thursday 7:00 AM - 03:00 PM. Lab Note: Centrifuge Immediately to separate and remove cellular material. Freeze supernatant, send cold. If the supernatant is transferred to another tube the secondary container must be labeled with at least 2 identifiers (Patient s name, HC number), preferably laboratory CIS barcode Number sticker. Sunday to Thursday 7:00 AM - 03:00 PM 4 working days. Liquid chromatography-tandem mass spectrometry (LC-MS/MS). CSF Amino Acid s (umol/l) < or =31 Day Age Groups 32 Days-23 Months 2-18 Years > or =19 Years Taurine 8-48 <28 <13 <20 Asparagine < Serine Hydroxyproline <7 <3 <1 <2 Glycine <33 <11 <35 Glutamine Aspartic Acid <1 <1 <1 <2 Histidine Threonine Citrulline <11 <6 <3 <9 Alanine Glutamic Acid <12 <3 <1 <4 Argininosuccinic Acid <1 <2 <1 <1 Arginine Proline <17 <6 <2 <6 Ornithine <24 <12 <6 <11 Cystine <2 <2 <1 <1 Lysine Methionine <43 <9 <6 <10 Valine Tyrosine < Isoleucine <27 <13 <8 <17 Leucine Phenylalanine < Tryptophan <12 <6 <4 <4 Allo-isoleucine <3 <2 <2 <2 When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, and recommendations for additional testing. Inadequate or wrong patient identification information (HC& Name). Sample not sent in ice OR collected in Wrong Container. Presence of RBCs in the sample (blood grossly stained) or blood clot. Insufficient sample.
4 Quantitative Amino acids Urine Random urine*. Container: plain urine container. Volume: 2-5 ml. *Avoid diluted urine when possible, Place specimen container in ice. Cold. Send specimen immediately to Central Processing area 24/7 at HGH or to Metabolic lab directly from Sunday -Thursday 7:00 AM - 03:00 PM. Lab Note: Mix urine well, centrifuge then transfer 2-4 ml aliquot of urine and freeze immediately. The secondary container must be labeled with at least 2 identifiers (Patient s name, HC number), preferably laboratory CIS barcode Number sticker. Sunday to Thursday 7:00 AM - 03:00 PM 7 days. liquid chromatography-tandem mass spectrometry (LC-MS/MS) Urine Amino Acid s (mmol/mol Age Groups creatinine) < or = > or =18 Months Months Years Years Years Years Taurine Asparagine Serine Hydroxyproline <287 <10 <5 <2 <2 <2 Glycine Glutamine Aspartic Acid <7 <6 <3 <1 <1 <1 Histidine Threonine Citrulline <8 <6 <2 <1 <2 <1 Alanine Glutamic Acid < <9 <4 <7 <4 Argininosuccinic Acid <9 <5 <4 <3 <8 <2 Arginine <15 <21 <13 Proline <13 <9 <2 <3 <3 Ornithine <30 <8 <5 <2 <2 <3 Cystine <15 <6 < Lysine Methionine <5 <5 <3 <3 <2 <2 Valine < <8 1-7 Tyrosine Isoleucine <10 <9 <7 <4 <3 <2 Leucine < <7 <6 Phenylalanine Tryptophan Alloisoleucine <3 <1 <1 <1 <1 <1 When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, and recommendations for additional testing. Inadequate or wrong patient identification information (HC& Name). Wrong Container. samples from adults with no specific indication.
5 Amino Acid and Acylcarnitine Screening DBS birth. Refer to CL 7085 Policy: Blood Collection on Saturday -Thursday 7:00am-3:00PM. 4 working days. Semi-quantitative determination of amino acids, acylcarnitines and succinylacetone amino acids by liquid chromatography-tandem mass spectrometry (LC-MS/MS) Provided in abnormal results report. Results reported as Normal or Abnormal. Normal screening result is reported as: "Normal Screening" Normal result excludes Amino acid, Fatty acids, and Organic acids disorders. Report for an abnormal screening result includes a quantitative result of the abnormal metabolites, a detailed interpretation of the results, including an overview of the results significance, possible differential diagnoses, and recommendations for additional biochemical testing and confirmatory studies (enzyme assay, molecular analysis). collected in expired Guthrie card. collected before 36 hours of infant birth. spots were damaged or delayed in transit. appears scratched or abraded. appears supersaturated. exhibits serum rings. appears clotted or layered. Applying blood using capillary tubes or using anticoagulants (EDTA, citrate).
6 Neonatal Thyroid stimulating hormone Screening, Blood Spots. birth. Refer to CL 7085 Policy: Blood Collection on Saturday -Thursday 7:00am-3:00PM. 3 working days. Solid phase, two-site fluoroimmunometric assay based on the direct sandwich technique µu/ml blood When abnormal results are detected, interpretation is given including recommendations for additional /repeat testing. collected in expired Guthrie card. collected before 36 hours of infant birth. spots were damaged or delayed in transit. appears scratched or abraded. appears supersaturated. exhibits serum rings. appears clotted or layered.
7 Neonatal 17α-OH-progesterone Screening, Blood Spots. onto special Whatman 903 filter paper after 36 hrs. of infant birth. Refer to CL 7085 Policy: Blood Collection on the Guthrie card and Handling. to test), If the blood specimen is taken after midday, or during weekends, the sample should be sent to the laboratory the next Saturday -Thursday 7:00am-3:00PM. 3 working days. Solid phase, time-resolved fluoroimmunoassay based on the competitive reaction between europium-labeled 17-OHP and sample 17-OHP for a limited amount of binding sites on 17-OHP specific polyclonal antibodies (derived from rabbit). Age ( gestational weeks ) Normal Range Unit Performing Lab Location 27 Up to Up to Up to Up to Up to Up to 84 nmol/l blood 33 Up to Up to Up to Up to to 40 Up to 30 Normal result is reported as: "Normal Screening". When abnormal result detected 17-OHP concentration, an interpretation and recommendations for additional /repeat testing included in the report. collected in expired Guthrie card. collected before 36 hours of infant birth. spots were damaged or delayed in transit. appears scratched or abraded. appears supersaturated. exhibits serum rings. appears clotted or layered. Rumailah Hospital - Room no.: 30
8 Neonatal Biotinidase Screening, Blood Spots. birth. Refer to CL 7085 Policy: Blood Collection on Saturday -Thursday 7:00am-3:00PM. 3 working days. Combines an enzyme reaction with a solid phase Time-resolved immunofluorescence assay. > 74 U/dL Normal U/dL Partial < 22 U/dL Deficient Normal result is reported as: "Normal Screening". When abnormal result detected Biotinidase concentration, an interpretation and recommendations for additional /repeat testing included in the report. collected in expired Guthrie card. collected before 36 hours of infant birth. spots were damaged or delayed (more than 14 days old by the time the laboratory received them). appears scratched or abraded. appears supersaturated. exhibits serum rings. appears clotted or layered.
9 Neonatal Galactose-1-phosphate uridyl transferase (GALT) Screening, Blood Spots. birth. Refer to CL 7085 Policy: Blood Collection on Saturday -Thursday 7:00am-3:00PM. 3 working days. Semi-quantitative enzymatic assay. 2.5 U/dl When abnormal results are detected, interpretation is given including recommendations for additional /repeat testing. collected in expired Guthrie card. collected before 36 hours of infant birth. spots were damaged or delayed in transit (more than 14 days old by the time the laboratory received them). appears scratched or abraded. appears supersaturated. exhibits serum rings. appears clotted or layered.
10 Neonatal Total Galactose Screening, Blood Spots. birth. Refer to CL 7085 Policy: Blood Collection on Saturday -Thursday 7:00am-3:00PM. 3 working days. Fluorescent galactose oxidase method. The assay measures total galactose, i.e. both galactose and galactose-1-phosphate mg/dl When abnormal results are detected, interpretation is given including recommendations for additional /repeat testing. collected in expired Guthrie card. collected before 36 hours of infant birth. spots were damaged or delayed in transit appears scratched or abraded. appears supersaturated. exhibits serum rings. appears clotted or layered.
11 Homocysteine (Total) Screening, Blood Spots birth. Refer to CL 7085 Policy: Blood Collection on Sunday -Thursday 7:00am-3:00PM. 7 days. Liquid Chromatography-Tandem Mass Spectrometry (LC- MS/MS) <12 μmol/l Results reported as Normal or Abnormal. Normal screening result is reported as: "Normal Screening" Report for an abnormal screening result includes a quantitative result and a detailed interpretation of the results, including an overview of the results significance, possible differential diagnoses, and recommendations for additional biochemical testing and confirmatory studies. collected in expired Guthrie card. collected before 36 hours of infant birth. spots were damaged or delayed in transit appears scratched or abraded. appears supersaturated. exhibits serum rings. appears clotted or layered. Applying blood using capillary tubes or using anticoagulants (EDTA, citrate). This test was developed and its performance characteristics determined by metabolic laboratory.
12 Second-tier Methylmalonic Acid, and 2-Methylcitric Acid Screening, Blood Spots Internal Reflex Test: Second-tier assay of newborn screening specimens when abnormal propionyl carnitine or methionine and Homocysteine (Total) concentrations are identified in a primary newborn screen. onto special Whatman 903 filter paper after 36 hrs of infant birth. Sunday -Thursday 7:00am-3:00PM. 5 working days. Liquid Chromatography-Tandem Mass Spectrometry (LC- MS/MS) Methylmalonic acid: < 5.0 umol/l Methylcitric acid: < 1.0 umol/l Report for an abnormal screening result includes a quantitative result and a detailed interpretation of the results, including an overview of the results significance, possible differential diagnoses, and recommendations for additional biochemical testing and confirmatory studies. collected in expired Guthrie card. collected before 36 hours of infant birth. spots were damaged or delayed in transit appears scratched or abraded. appears supersaturated. exhibits serum rings. appears clotted or layered. Applying blood using capillary tubes or using anticoagulants (EDTA, citrate). This test was developed and its performance characteristics determined by metabolic laboratory.
13 Hemoglobinopathies, Blood spot birth. Refer to CL 7085 Policy: Blood Collection on If the infant is to receive a transfusion, every effort must be made to collect a specimen prior to transfusion regardless of the infant s age. List all transfusion dates in the remarks section of the blood card. Sunday - Thursday 7:00am-3:00PM. 10 days. High performance liquid chromatography (HPLC). Normal [F+A] Normal screening result is reported as: "Normal ". Report for an abnormal screening result includes a detailed interpretation of the results and overview of the results significance, possible differential diagnoses, and recommendations for additional testing and confirmatory studies. collected in expired Guthrie card. collected before 36 hours of infant birth. spots were damaged or delayed in transit. appears scratched or abraded. appears supersaturated. exhibits serum rings. appears clotted or layered. Applying blood using capillary tubes or using anticoagulants (EDTA, citrate).
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