Wednesday, March 18, 2026

2016-06-14_Baystate_Genetics

 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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