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Test ID: Neonatal Screening Test
Neonatal Screening Test
Cerner Care Set Order (group of orders)- Neonatal Screening Testing and DBS Hemoglobinopathies
Useful For

Newborn screening identifies disorders  that affect newborn survival or long-term health.

                                  List of Medical Conditions Screened by Newborn Screening Program in the State of Qatar

Number

 Core conditions

 Marker

Classification

1

Biotinidase deficiency

Biotinidase activity

Other Disorder

2

Classical Galactosemia (Galactose-1-phosphate Uridyl Transferase/ GALT deficiency)

Total Galactose                                                            GALT activity

3

Glucose-6-phosphate dehydrogenase deficiency (G6PD)

G6PD in cord blood (Special chemistry)

4

Phenylketonuria (Classic PKU)

Phenylalanine                                                               Phe/Tyr

Metabolic Disorder -Amino acid disorder

5

Maple syrup urine disease (Branched chain ketoacid dehydrogenase kinase deficiency)

Valine                                                                              XLE (leu+Isoleu+alloiso+OHPro)

6

Tyrosinemia Type I

Succinylacetone, Tyrosine

7

Citrullinemia Type I (Argininosuccinate synthase deficiency)

Citrulline

8

Argininosuccinic acidemia (Argininosuccinate lyase deficiency)

Citrulline Argininosuccinic acid

9

Classical Homocystinuria                                                                                   (Cystathionine beta synthase deficiency)

Total homocysteine                                                    Methionine

10

Hypermethioninemia                                                                                              due to methionine Adenosyl Transferase deficiency

Methionine                                                                      Met/Phe

11

Methylmalonic aciduria (mutase deficiency)                                                          

Propionylcarnitine (C3)                                              Methylmalonic acid (reflex test)

Metabolic Disorder - Organic acid condition

12

Methylmalonic aciduria (Cobalamin A deficiency)

Propionylcarnitine (C3)                                              Methylmalonic acid (reflex test)

13

Methylmalonic aciduria (Cobalamin B deficiency)

Propionylcarnitine (C3)                                              Methylmalonic acid (reflex test)

14

Propionic acidemia (Propionyl-CoA-carboxylase deficiency)

Propionylcarnitine (C3)                                              Methylmalonic acid (reflex test)

15

Isovaleric acidemia

Isovalerycarnitine (C5)

16

Glutaric acidemia Type I

Glutarylcarnitine (C5DC)

17

3-methylcrotonyl-coA-carboxylase deficiency

Hydroxyisovalerylcarnitine (C5OH)

18

Beta-Ketothiolase deficiency

Hydroxyisovalerylcarnitine (C5OH)

19

3-Hydroxy-3-Methylglutaryl (HMG)-CoA Lyase deficiency

Hydroxyisovalerylcarnitine (C5OH)

20

Multiple Carboxylase deficiency

Hydroxyisovalerylcarnitine (C5OH)

21

Carnitine deficiency (Primary) /Carnitine uptake defect (CUD)

Free carnitine (C0)

Metabolic Disorder -Fatty acid oxidation disorder

22

Medium Chain Acyl-CoA dehydrogenase deficiency [MCAD]

Octanoylcarnitine(C8)                                             Hexanoylcarnitine (C6)                                             Decanoylcarnitine (C10)                                             Dodecanoylcarnitine (C12)

23

Very long chain Acyl-CoA dehydrogenase deficiency [VLCADD]

Tetradecanoylcarnitine (C14) Tetradecenoylcarnitine (C14:1)

24

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [LCHAD]

C18, C18:1, C16OH

25

Trifunctional protein deficiency [TFP]

Stearylcarnitine (C18) Hydroxypalmitoylcarnitine (C16OH)                       Oleylcarnitine (C18:1)

26

Carnitine palmitoyl transferase (CPT1) deficiency

Free carnitine (C0)                                                  C0/C16+C18

27

Carnitine palmitoyl transferase 2 (CPT 2) deficiency

Free carnitine (C0)                                                     Palmitoylcarnitine (C16)                                          Oleylcarnitine (C18:1)

28

Carnitine acylcarnitine translocase (CACT) deficiency

Free carnitine (C0)                                                     Palmitoylcarnitine (C16)                                          Oleylcarnitine (C18:1)

29

Congenital Hypothyroidism (primary)

Neonatal TSH

Endocrine Disorder

30

Congenital Adrenal Hyperplasia (classic, salt wasting)

17-hydroxyprogesterone

31

Sickle cell disease

HbS

Hemoglobin Disorder

32

HbS, beta-thalasemia

HbS

33

HbS,C disease

HbS, HbC

34

Beta Thalassemia Major

Low HbA < 1.5%

                  Secondary conditions 

Marker

Classification

35

Galactokinase deficiency

Total Galactose                                                            GALT activity

Other Disorder

36

Galactose -1-phosphate Epimerase deficiency

Total Galactose                                                 

GALT activity

37

Hyperphenylalaninemia due to guanosine triphosphate cyclohydrolase (GTPCH)

Phenylalanine                                                               Phe/Tyr

Metabolic Disorder -Amino acid disorder

38

Hyperphenylalaninemia due to 6-pyruvoyl tetrahydrobiopterin synthase (PTPS) deficiency

Phenylalanine                                                               Phe/Tyr

39

Hyperphenylalaninemia due to dihydropteridine reductase (DHPR) deficiency

Phenylalanine                                                               Phe/Tyr

40

Hyperphenylalaninemia due to pterin-4 acarbinolamine dehydratase (PCBD) deficiency

Phenylalanine                                                               Phe/Tyr

41

Benign Hyperphenylalaninemia

Phenylalanine                                                               Phe/Tyr

42

Tyrosinemia Type II

Tyrosine

43

Tyrosinemia Type III

Tyrosine

44

Citrullinemia Type II (Citrin deficiency)

Citrulline

45

Argininemia (Arginase deficiency)

Arginine

46

Hypermethioninemia                                                                                              due to glycine N-methyltransferase deficiency

Methionine                                                                      Met/Phe

47

Hypermethioninemia                                                                                              due to S-adenosylhomocysteine hydrolase deficiency

Methionine                                                                      Met/Phe

48

Methylene Tetrahydrofolate Reductase deficiency

Total homocysteine                                                    Methionine

49

Combined methylmalonic acidemia and homocystinuria (Cobalamin C deficiency)

Total Homocysteine                                                            Propionylcarnitine (C3)                                              Methylmalonic acid (reflex test)

Metabolic Disorder - Organic acid condition

50

Combined methylmalonic acidemia and homocystinuria (Cobalamin D deficiency)

Total Homocysteine                                                            Propionylcarnitine (C3)                                              Methylmalonic acid (reflex test)

51

Combined methylmalonic acidemia and homocystinuria (Cobalamin F deficiency)

Total Homocysteine                                                            Propionylcarnitine (C3)                                              Methylmalonic acid (reflex test)

52

Combined methylmalonic acidemia and homocystinuria (Cobalamin J deficiency)

Total Homocysteine                                                            Propionylcarnitine (C3)                                              Methylmalonic acid (reflex test)

53

Malonic aciduria

Malonylcarnitine (C3DC)

54

2-Methylbutyrylglyciniuria

Isovalerycarnitine (C5)

55

3-Methylglutaconic aciduria

Hydroxyisovalerylcarnitine (C5OH)

56

2-Methyl 3-hydroxybutyric aciduria

2-Methyl 3-hydroxybutyrylcarnitine (C5OH)

57

Isobutyrylglycinuria

Butyryl/Isobutyrlcarnitine (C4)

58

Medium /Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [M/SCHAD]

OH-Butyrylcarnitine (C4OH)

Metabolic Disorder -Fatty acid oxidation disorder

59

Glutaric acidemia TypeII                                                                                                         (Multiple Acyl-CoA dehydrogenase deficiency)

Glutarylcarnitine (C5DC)                                           Butyrylcarnitine (C4)                                                  Isovalerylcarnitine (C5)

60

Short Chain Acyl-CoA dehydrogenase deficiency [SCAD]

Butyryl/Isobutyrlcarnitine (C4)                             Ethylmalonic acid (reflex test)

61

2,4 Dienoyl-CoA reductase deficiency

Decadienoylcarnitine (C10:2)

62

Hemoglobin C disease

HbC

Hemoglobin Disorder

63

Hemoglobin D disease

HbD

64

Hemoglobin E disease

HbE

65

Compound heterozygote (combination of Hb S/Hb C/Hb E/ Hb D/ αThal/ βThal)

HbS, HbC, HbD, HbE, Low HbA, Hb Barts

66

Sickle cell trait

HbAS

67

Beta Thalassemia Intermedia

Low HbA

68

Alpha Thalassemia Major/Intermedia

Hb Barts

69

Hemoglobin C Trait

HbAC

70

Hemoglobin D Trait

HbAD

71

Hemoglobin E trait

HbAE

72

Hereditary persistence of fetal hemoglobin

Low HbA

Core conditions are the disorders that newborn screening is specifically designed to identify.

A condition on the newborn screening panel is classified as a “core condition” if

• There is a specific and sensitive test available to detect it

• The health outcomes of the condition are well understood

• There is an available and effective treatment

• Identification of the condition could affect the future reproductive decisions of the family

Secondary conditions are the disorders that can be identified when looking for a core condition. 

 A condition on the newborn screening panel is classified as a “secondary condition” if it is 

• Identified unintentionally when screening for one of the core conditions, or as a consequence of  

• Confirmatory testing for an out-of-range result of a core condition.

Tests Can be requested in Cerner by selecting the Care Set Order “Neonatal Screening Test”.

Neonatal Screening Test: group of orders needed for the initial (first card) neonatal screening:

  • Neonatal Screening Testing*
  • DBS Hemoglobinopathies

Neonatal Screening Testing * :  Cerner order includes the seven tests (orders) listed below:

• Thyroid Stimulating Hormone-DBS

• Homocysteine Screening DBS

• Galactose-1-phosphate uridyltrasferase DBS

• Total Galactose DBS

• 17 Hydroxyprogesterone DBS

• Biotinidase DBS

• Amino Acid & Acylcarnitine Screening DBS

 N.B. All the above tests can be ordered separately as needed e.g. Successive card requested to confirm 1st card screening results. Please avoid requesting all the seven screening tests when only a specific repeat is required.

Neonatal Screening Test Disclaimer Statement

• Cutoff values used are for samples collected during the newborn period. Cutoff values for older individuals have not been established. Therefore, screening result of older individuals should be interpreted with caution.

• Diagnostic testing work-up is advised in parallel with newborn screening if the neonate is symptomatic and/or if there is a relevant family history.

• Blood transfusion interferes with GALT and hemoglobin screens. Screening for these disorders should be repeated on a sample collected 4 months after last transfusion.

• False negative or false positive screening results may occur due to maternal or infant use of medications such as Inotropes, steroids, antibiotics, vitamins, supplements or special diet. Repeat screening after discontinuation of medication or when the newborn is clear of maternal medications is recommended.

• Newborn screening is not diagnostic test and may not identify all disease variants due to biological variations and disease characteristics.

 
Method name and description

Method names and description are test specific, detailed  information can be found under each test ID
Reporting name

Detailed information can be found under each test ID.
Aliases

Thyroid Stimulating Hormone-DBS

Homocysteine Screening DBS

Galactose-1-phosphate uridyltrasferase DBS

Total Galactose DBS

17 Hydroxyprogesterone DBS

Biotinidase DBS

Amino Acid & Acylcarnitine Screening DBS

Neonatal Screening Testing

DBS Hemoglobinopathies

Dried Blood Spot

Newborn Screen

Newborn Screening

Guthrie card

 
Specimen type / Specimen volume / Specimen container

Specimen type :Whole blood dried on filter paper.

Specimen volume  :Collect the required number of uniform blood spots: five (5) circles on the first card for  and one (1) on the second card.
Collection instructions / Special Precautions / Timing of collection

Blood must be  collected from a heel prick with direct application onto special Whatman 903 filter paper.

Blood spot collection shall be completed between twenty-four (24) and seventy-two (72) hours after the birth.
Relevant clinical information to be provided

All required fields of the patient’s information in the specimen collection card must be completed by a ballpoint pen, and soft-tip pens that will not copy through the other attached card shall be avoided. This information allows correct interpretation of the results and, in the event of screens positive for a disease or repeated collection required, it will enable the Newborn Screening Unit to contact the parents / legal guardian to recall the patient.

The required patient’s information from HMC hospitals, or other private hospitals, shall be documented on the card accordingly:

• Newborn Patient Number:For HMC facilities: Health care (HC) number. Outside    HMC: Medical record    number (MRN) as applicable.

• Newborn last and first name.

• Date and time of birth.

• Weight at birth.

• Week of gestation.

• Sex: (M, F).

• Multiple (Yes, twins or more) For HMC multiple births, the neonates shall be labeled alphabetically  starting from A (e.g., Twin A B/O; Triplet A B/O).

• Mother’s patient number: (mother’s HC number).

• Mother’s last and first name.

• Telephone: (numbers for parents / legal guardian to call the patient in case blood re-collection is needed).

• Card type (first, successive): Specimen collected for initial screening or retest “successive.”

• Sample taken while on TPN: (Yes, No).

• Transfusion status, exact type of transfusion (e.g., RBC) and date of last transfusion.

• Remarks: Specific information of mother’s health status and / or medications  /Positive family history.

• In case of repeated sampling, the reason shall be documented in the remarks area.

• Sender location where the specimen was collected e.g., hospital / ward / unit   name.

The potential adverse impact of missing and/or inaccurate demographic information on the interpretation of an infant’s specimen can have serious consequences.

Inaccurate date of birth and/or collection can lead  false negatives or  false positives results.

Failure to indicate that  an infant has had a transfusion could lead to an infant screening negative for a subset of disorders on the panel when they are truly affected.

Failure to provide an accurate birth weight and/or feeding status can lead to difficulty interpreting results and ultimately delays in identifying a truly affected infant.

Inaccurate completion of the mother/guardian’s contact information can lead to delays in locating an infant who has screened positive for a disorder on the panel – and subsequent delays in the initiation of treatment.

 
Storage and transport instructions

Ambient.

The dried blood specimens must be transported to the laboratory every working day (Saturday to Thursday) with appropriate tracking documentation.
Specimen Rejection Criteria

Insufficient quantity of blood.

Blood spots appear scratched or abraded.

Blood spots are wet and/or discolored/diluted.

Blood spots are supersaturated.

Blood spots exhibit serum rings.

Blood spots appear clotted or layered.

Blood spots were damaged or delayed in transit.

Utilizing expired blood cards.

Delayed (old) specimen > seven (7) days from collection.

Missing and/or inaccurate demographic information.

Anticoagulants (EDTA, citrate) will interfere with some newborn screening tests

                  Dried Blood Spot Specimen Quality for Newborn     screening

Good Spots (front & back)

Problem

Examples

Causes

Prevention

Insufficient quantity:

Circles not filled with blood

Collector unable to obtain large drops of blood from heel.

Hydrate the baby; warm and lower the heel; puncture again.

Insufficient quantity: Filter paper not saturated (front and back of same card)

Blood applied to each circle did not soak through evenly.

 

Apply one large drop per circle; check reverse for soak through; don’t touch sample area.

Filter paper damage: Creases and tears

Wet filter paper is easily damaged.

Do not overload card or touch the wet sample; do not crease.

Filter paper damage: needle/abrasion

 Needle scraped on wet filter paper.

Avoid Needle / Capillary if possible; never touch Needle to card.

Poor quality: Layered specimen

Collector unable to apply large drops of blood.

Apply one large drop per circle; never add to a partially dry spot.

Poor quality: Contamination

Blood contaminated by liquid absorbed on card after blood applied.

Dry the cards flat away from spilled liquids.

Poor quality: Serum rings

Serum or tissue fluid separates from blood cells on card.

Dry flat; apply gentle heel pressure rather than “milking”.

Poor quality: Clotted specimen

Delayed application of blood to card using capillary or syringe.

Avoid devices; if used, need one per spot; no anticoagulant.

Poor quality: Blood applied to both sides (smearing front and back of same card)

Smeared blood on both sides suggests blood applied to both.

Apply blood to one side only. Dry flat for at least 3 hours before closing flap.

• Babies whose samples are sent in expired Guthrie cards will require a repeat sample.

• Delayed or old specimens (> 7 days from collection): Galactosemia (GALT) and Biotinidase results will not be reported.

• Anticoagulants (EDTA, citrate) use interferes with some newborn screening results.

• Blood transfusions are known to affect the results of screening for the hemoglobinopathies and  galactosemia. Infants who are affected with one of these disorders may be missed if they have a transfusion prior to their screen because the donor blood interferes with the screening. If an infant has a blood transfusion prior to their newborn screen, a repeat sample should be obtained 4 to 6 months after their most recent transfusion.
Biological reference intervals and clinical decision values

Detailed  information can be found in under each test ID.
Factors affecting test performance and result interpretation

Detailed  information can be found in under each test ID.
Turnaround time / Days and times test performed / Specimen retention time

Detailed  information can be found in under each test ID.

Specimen retention time:specimens are stored b at 2-8°C for two (2) years , long-term storage at ambient temperature for indefinitely.

Hamad Medical Corporation

HMC is the principal public healthcare provider in the State of Qatar, delivering the safest, most effective and most compassionate care to each and every one of our patients.

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