Result Details
Patient: STEBBINS, RICHARD
MRN: 339334
Carnitine Interpretation: (NOTE)
Date /Time: June 14, 2016 15:59
Acyl/Free Carnitine Ratio: 0.2
No Reference Range Found
Acylcarnitine (AC): 8
No Reference Range Found
Carnitine Free: 46
No Reference Range Found
Total Carnitine: 54
No Reference Range Found
Carnitine Interpretation: (NOTЕ)
Contributor System: SUNQUEST
Accession Number: T489440
Status: Auth (Verified)
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
1.) (Medium Importance) Result Comment by Contributor_system, SUNQUEST on June 18, 2016 10:03
In this sample, the carnitine profile was normal.
Action List:
Review by Skalski MD, Mark S on
Action status: Requested
Requested by Umanzor MD, Rene Alberto on June 18, 2016 16:04 Request Comment: Assigned to wrong physician
Review by Villalba Lopez MD, Ricardo Fabio on
Action status: Requested
Requested by Villalba Lopez MD, Ricardo Fabio on November 18, 2016 10:02
Order by Umanzor MD, Rene Alberto on June 14, 2016 15:59 Action status: Completed
Perform by S -STAT AREA - BMC, on June 18, 2016 10:03
Action status: Completed
Endorse by Umanzor MD, Rene Alberto on June 18, 2016 16:04
Action status: Refused
Comment: Assigned to wrong physician
Page 1
Patient: STEBBINS, RICHARD
MRN: 339334
Result Details
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
Interpretation Alpha Galactosidase: (NOTE)
Date / Time: June 14, 2016 15:59
Referral Reason: Not provided
Reviewed By: Kimiyo M. Raymond, M.D.
Alpha-Galactosidase, Serum: 0.118
No Reference Range Found
Interpretation Alpha Galactosidase: (NOTE)
Contributor System: SUNQUEST
Accession Number: T489440
Status: Auth (Verified)
1.) (Medium Importance) Result Comment by Contributor_system, SUNQUEST on June 20, 2016 13:31
In this specimen, the activity of alpha-galactosidase is
normal. These results indicate that this individual is NOт
affected with Fabry disease (OMIM 301500).
-ADDITIONAL INFORMATION
Fluorometric Enzyme Assay
Action List:
Review by Villalba Lopez MD, Ricardo Fabio on
Action status: Requested
Requested by Villalba Lopez MD, Ricardo Fabio on November 18, 2016 10:01
Order by Umanzor MD, Rene Alberto on June 14, 2016 15:59
Action status: Completed
Perform by L -MAIN LAB (BMC), on June 20, 2016 13:31
Action status: Completed
Endorse by Umanzor MD, Rene Alberto on June 20, 2016 15:53
Action status: Completed
Page 1
Patient: STEBBINS, RICHARD
MRN: 339334
Acylcarnitine comment: (NOTE)
Date / Time: June 14, 2016 15:59
Stearoylcarnitine, C18: 0.09
No Reference Range Found
Acetylcarnitine, C2: 5.95
No Reference Range Found
Acylcarnitine comment: (NOTE)
Tetradecadienoylcarnitine, C14:2: 0.03
No Reference Range Found
Decenoylcarnitine, C10:1: 0.12
No Reference Range Found
linoleylcarnitine, C18:2: 0.13
No Reference Range Found
Isovaleryl-/2-Methylbutyrylcarn C5: 0.18
No Reference Range Found
3- ОН -Неxadecanoylcarnitine, C16-ОН: 0.01
No Reference Range Found
Octenoylcarnitine, C8:1: 0.23
No Reference Range Found
3-OH -Oleylcarnitine, C18:1- OH: 0.01
No Reference Range Found
3- ОН -Нexadecenoylcarnitine, C16:1-OH: 0.01
No Reference Range Found
Octanoylcarnitine, C8: 0.13
No Reference Range Found
Tetradecadienoylcarnitin C14:1: 0.05
No Reference Range Found
Oleylcarnitine, C18:1: 0.25
No Reference Range Found
Decanoylcarnitine, C10: 0.12
No Reference Range Found
Result Details
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
Page 1
Patient: STEBBINS, RICHARD
MRN: 339334
3- OH -Tetradecenoylcarnitine C14:1 OH: 0.02
No Reference Range Found
3- OH -Linoleylcarnitine, C18:2- ОН: <0.02
3- OH -tetradecanoylcarnitine C14- ОН: 0.01
No Reference Range Found
Dodecanoylcarnitine, C12: 0.08
No Reference Range Found
Tetradecanoylcarnitine, C14: 0.03
No Reference Range Found
Glutarylcarnitine, C5-dc: 0.05
No Reference Range Found
Hexadecanoylcarnitine, C16: 0.19
No Reference Range Found
Iso-/ Butyrylcarnitine, C4: 0.20
No Reference Range Found
Propionylcarnitine, C3: 0.40
No Reference Range Found
3- ОН -Нexanoylcarnitine, C6-OH: 0.01
No Reference Range Found
3- OH -Dodecanoylcarnitine, C12-OH: 0.01
No Reference Range Found
Dodecenoylcarnitine, C12:1: 0.05
No Reference Range Found
Hexanoylcarnitine, C6: 0.03
No Reference Range Found
Hexadecenoylcarnitine, C16:1: 0.03
No Reference Range Found
Contributor System: SUNQUEST
Accession Number: T489440
Status: Auth (Verified)
Result Details
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
1.) (Medium Importance) Result Comment by Contributor_system, SUNQUEST on June
Page 2
Patient: STEBBINS, RICHARD
MRN: 339334
18, 2016 10:03
Result Details
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
In this sample, the acylcarnitine profile was normal.
Test Performed by: Mayo Clinic Laboratories, 200 First St SW,
Rochester, MN 55905 Laboratory Director: Franklin R. Cockerill III, M.D.
Action List:
Review by Skalski MD, Mark S on
Action status: Requested
Requested by Umanzor MD, Rene Alberto on June 18, 2016 16:04 Request Comment: Assigned to wrong physician
Review by Villalba Lopez MD, Ricardo Fabio on
Action status: Requested
Requested by Villalba Lopez MD, Ricardo Fabio on November 18, 2016 10:01
Order by Umanzor MD, Rene Alberto on June 14, 2016 15:59
Action status: Completed
Perform by S -STAT AREA - BMC, on June 18, 2016 10:03
Action status: Completed
Endorse by Umanzor MD, Rene Alberto on June 18, 2016 16:04
Action status: Refused
Comment: Assigned to wrong physician
Page 3
Result Details
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
Patient: STEBBINS, RICHARD
MRN: 339334
Amino Acid Interpretation, Blood: (NOTE)
Date / Time: June 14, 2016 15:59
Argininosuccinic Acid, Bld Amino Acid: 0
No Reference Range Found
Beta-Alanine, Bld Amino Acid: 11
No Reference Range Found
Cystathionine, Bld Amino Acid: <1
Ethanolamine, Bld Amino Acid: 8
No Reference Range Found
Alpha-Amino-N-Butyric AcidBld Amino Acid: 22
No Reference Range Found
Sarcosine, Bld Amino Acid: 5
No Reference Range Found
Phosphoethanolamine, Bld Amino Acid: <2
Proline, Bld Amino Acid: 250
No Reference Range Found
Arginine, Bld Amino Acid: 84
No Reference Range Found
Phenylalanine, Bld Amino Acid: 47
No Reference Range Found
Glycine, Bld Amino Acid: 277
No Reference Range Found
Serine, Bld Amino Acid: 96
No Reference Range Found
Aspartic Acid, Bld Amino Acid: 2
No Reference Range Found
Alpha-Aminoadipic Acid, Bld Amino Acid: 1
No Reference Range Found
Amino Acid Interpretation, Blood: (NOTE)
Glutamine, Bld Amino Acid: 503
No Reference Range Found
Page 1
Patient: STEBBINS, RICHARD
MRN: 339334
Hydroxylysine, Bld Amino Acid: 0
No Reference Range Found
1-Methylhistidine, Bld Amino Acid: 6
No Reference Range Found
Allo-Isoleucine, Bld Amino Acid: 0
No Reference Range Found
Beta-Aminoisobutyric Acid, Bld Amino Acid: 2
No Reference Range Found
Hydroxyproline, Bld Amino Acid: 15
No Reference Range Found
Leucine, Bld Amino Acid: 97
No Reference Range Found
Taurine, Bld Amino Acid: 194
No Reference Range Found
Isoleucine, Bld Amino Acid: 62
No Reference Range Found
3-Methylhistidine, Bld Amino Acid: 5
No Reference Range Found
Carnosine, Bld Amino Acid: 0
No Reference Range Found
Cystine, Bld Amino Acid: 28
No Reference Range Found
Anserine, Bld Amino Acid: 0
No Reference Range Found
Glutamic Acid, Bld Amino Acid: 19
No Reference Range Found
Tryptophan, Bld Amino Acid: 44
No Reference Range Found
Phosphoserine, Bld Amino Acid: 0
No Reference Range Found
Methionine, Bld Amino Acid: 19
No Reference Range Found
Result Details
Page 2
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
Result Details
Patient: STEBBINS, RICHARD
MRN: 339334
Valine, Bld Amino Acid: 206
No Reference Range Found
Homocitrulline, Bld Amino Acid: 0
No Reference Range Found
Ornithine, Bld Amino Acid: 59
No Reference Range Found
Asparagine, Bld Amino Acid: 53
No Reference Range Found
Tyrosine, Bld Amino Acid: 49
No Reference Range Found
Threonine, Bld Amino Acid: 122
No Reference Range Found
Histidine, Bld Amino Acid: 72
No Reference Range Found
Citrulline, Bld Amino Acid: 33
No Reference Range Found
Lysine, Bld Amino Acid: 146
No Reference Range Found
Gamma-Amino-N-Butyric AcidBld Amino Acid: 0
No Reference Range Found
Alanine, Bld Amino Acid: 370
No Reference Range Found
Contributor System: SUNQUEST
Accession Number: T489440
Status: Auth (Verified)
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
1.) (Medium Importance) Result Comment by Contributor_system, SUNQUEST on June 21, 2016 8:51
In this sample, the amino acid profile was essentially normal.
------ADDITIONAL INFORMATION
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Test Performed by: Mayo Clinic Laboratories, 200 First St Sw, Rochester, MN 55905 Laboratory Director: Franklin R. Cockerill III, M.D.
Page 3
Result Details
Patient: STEBBINS, RICHARD
MRN: 339334
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
Action List:
Review by Villalba Lopez MD, Ricardo Fabio on
Action status: Requested
Requested by Villalba Lopez MD, Ricardo Fabio on November 18, 2016 10:01
Order by Umanzor MD, Rene Alberto on June 14, 2016 15:59
Action status: Completed
Perform by E -ENDOCRINOLOGY LAB, on June 21, 2016 8:51
Action status: Completed
Endorse by Umanzor MD, Rene Alberto on June 21, 2016 9:25
Action status: Completed
Page 4
Result Details
Patient: STEBBINS, RICHARD
MRN: 339334
Organic Acid Screen: (NOTE)
Date / Time: June 14, 2016 16:17
Organic Acid Screen: (NOTE)
Contributor System: SUNQUEST
Accession Number: T489566
Status: Auth (Verified)
Source Type: Urine
Source:
Collected by Contributor_system, SUNQUEST
Collected on June 14, 2016 16:17
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
1.) (Medium Importance) Result Comment by Contributor system, SUNQUEST on June
19, 2016 9:34
In this sample, there were no unusual organic acids.
-ADDITIONAL INFORMATION--
Gas Chromatography-Mass Spectrometry (GC/MS)
Test Performed by: Mayo Clinic Laboratories, 200 First St SW,
Rochester, MN 55905 Laboratory Director: Franklin R. Cockerill III,
M.D.
Action List:
Review by Villalba Lopez MD, Ricardo Fabio on
Action status: Requested
Requested by Villalba Lopez MD, Ricardo Fabio on November 18, 2016 10:02
Order by Villalba Lopez MD, Ricardo Fabio on June 14, 2016 16:17
Action status: Completed
Perform by K -CHEMISTRY/KODAK, on June 19, 2016 9:34
Action status: Completed
Endorse by Villalba Lopez MD, Ricardo Fabio on June 24, 2016 15:19
Action status: Completed
Page 1
Patient: STEBBINS, RICHARD
MRN: 339334
Urine Miscellaneous Chemistry: (NOTE)
Date / Time: June 14, 2016 16:18
Urine Miscellaneous Chemistry: (NOTE)
Contributor System: SUNQUEST
Accession Number: T489574
Status: Auth (Verified)
Result Details
Printed by: Villalba Lopez MD, Ricardo Fabio
Printed on: 11/18/2016 10:03
1.) (Medium Importance) Result Comment by Contributor_system, SUNQUEST on June 24, 2016 14:32
Mevalonate: 0.11 mg/g creatinine
Normal Range: <2: 0.57 +/- 0.33(SD) mg/g creatinine, n EQ
>2: 0.25 +/- 0.14(SD) mg/g creatinine, n EQ 52
34
Affected Range: Classic MK deficiency: >4000 mg/g creatinine
Hyper IgD syndrome:
Well: 2-16 mg/g creatinine
Acute: 28-187 mg/g creatinine
Interpretation: Normal result.
Testing performed by Kennedy Krieger Institute, Baltimore, MD
Action List:
Review by Villalba Lopez MD, Ricardo Fabio on
Action status: Requested
Requested by Villalba Lopez MD, Ricardo Fabio on November 18, 2016 10:02
Order by Villalba Lopez MD, Ricardo Fabio on June 14, 2016 16:18 Action status: Completed
Perform by L -MAIN LAB (BMC), on June 24, 2016 14:32
Action status: Completed
Endorse by Villalba Lopez MD, Ricardo Fabio on June 24, 2016 15:19 Action status: Completed
Page 1











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