Re: Notes on my son and me (genetic testing)

August 16, 2005

RH

Re your question about nDNA testing, I found at

http://www.horizonmedicine.com/html/ordering.asp

a downloadable pdf entitled " Molecular / Metabolic Test Request Form " which

has several sections, five of which I've pasted below. Seems that the fourth

and fifth of these (and maybe the first, too) MIGHT be what you're

interested in (just guessing, e.g. references to " nuclear " and " X-linked " ).

I am very impressed with the content on this web site and the number of

relevant tests they do. Wow, I'm jealous. Looks like someday down the road

I've got to give up with all these other docs and (hopefully) go see Dr.

Shoffner.

I now have an appointment with (yet another) neurologist to do my " initial

eval " MDA visit. As I've said before, this doctor is in the same group AND

office AND hospital as my other neuro, who has finally officially referred

me for this, yet these two docs seem to operate under completely different

" umbrellas " of administration or something. It has been SOME project,

involving my repeatedly contacting AAs of both of these docs plus TWO MDA

regional health-care coordinators, but I've now got them all on the same

page. Somehow even though Dr. Cros has already seen and tested me, and is

completely convinced that I have mito myopathy, I nonetheless have to be

re-evaluated by Dr. Gilmore O'Neill to make this official to the MDA.

Whatever. I'm hoping this new doc, given the general thrust of the MDA, will

go off on a metabolic-testing (and TREATMENT???) direction with me.

Hey, it sure has been slow on this email list lately.

Steve D.

MTDNA DEPLETION TESTING

___ MTDNA nuclear DNA/MTDNA Ratio

MTDNA POINT MUTATIONS

___ 3243 transfer RNA-Leucine (UUR) (MELAS) (LEIGH)

___ 3271 transfer RNA Leucine (UUR) (MELAS)

___ 8344 transfer RNA Lysine (MERRF) (LEIGH)

___ 8356 transfer RNA Lysine (MERRF)

___ 8993 ATPase 6 (NARP, LEIGH)

__ 1555 12S rRNA (Deafness)

__ 7445 tRNA serine (Deafness)

__ 11778 ND4 (Leber hereditary optic neuropathy - LHON)

__ 3460 ND1 (Leber hereditary optic neuropathy - LHON)

__ 14484 ND6 (Leber hereditary optic neuropathy - LHON)

__ Synergistic mutation panel (Leber hereditary optic neuropathy -LHON)

MTDNA Sequencing: Discuss with Dr. Shoffner prior to ordering.

___ Ribosomal RNA genes (2 genes)

___ Transfer RNA genes (22 genes)

___ Complex I genes (7 genes)

___ Complex III genes (1 gene)

___ Complex IV genes (3 genes)

___ Complex V genes (2 genes)

Nuclear OXPHOS gene sequencing: Discuss with Dr. Shoffner prior to ordering.

___ Complex I: NDUFS1

___ Complex I: NDUFV1

___ Complex I: NDUFS4

___ Complex I: NDUFS7

___ Complex I: NDUFS8

___ Complex II: Flavoprotein subunit A

___ Complex III (BCS1L gene)

Nuclear OXPHOS Gene Sequencing (Discuss with Dr. Shoffner prior to

ordering.)

___ OPA1: Dynamin related GTPase (Autosomal dominant optic atrophy)

___ ABC7: (mitochondrial iron transporter (X-linked sideroblastic anemia)

___ Thymidine phosphorylase (Mitochondrial neurogastrointestinal

encephalopathy)

___ SURF1 (Leigh disease)

___ SCO1 (COX deficiency, hepatopathy, encephalopathy)

___ SCO2 (COX deficiency, cardiomyopathy, encephalopathy)

___ COX10 (COX Deficiency, proximal renal tubulopathy, encephalopathy,

leukodystrophy)

___ COX15 (COX Deficiency, Leigh disease, fatal hypertrophic cardiomyopathy

___ Frataxin (Friedreich ataxia)

___ ANT1 (CPEO, multiple mtDNA deletions)

___Gamma Polymerase (POLG1) (CPEO, Parkinsonism, Ataxic Sensory Neuropathy,

multiple mtDNA deletions)

___ Twinkle (C10ORF2) (CPEO, sensory ataxic neuropathy, multiple mtDNA

deletions)

> Date: Tue, 16 Aug 2005 04:04:10 -0000

>

> Subject: Notes on my son and me (genetic testing)

>

> [...]

>

> Regarding myself, I don't know if I posted this but I have an

> appointment with Dr. K's partner at the end of September. I also

> just got back my genetic testing results from Horizon. There are no

> significant defects in the mtDNA (a few meaningless ones, normal is

> what it says). I pored over the results, and as far as I can tell,

> there was no nDNA sequencing done. Does anyone know if Horizon does

> nDNA sequencing too? I vaguely remember that it's much more

> complicated, so I don't recall if they do it. I had been told in the

> past that I most likely have a nDNA defect, not a mtDNA defect.

>

> Take care,

> RH

August 16, 2005

RH

I can only answer for Michigan, but think this might be true for the

entire county. In Michigan, children who are considered special

education kiddos are provided services in private schools. It is

usually provided at a public school or mutually agreed upon location.

An example is that the speech therapist at my last school provided

speech therapy to these children at the local pre-school and at our

public school before school (sometimes during or after school) for

those in other locations or not attending a preschool. I would suggest

checking into this. It might be a different therapist.

I only had my mtDNA checked at Horizon. No defect was found, but it is

strongly suspected that ours is maternally inherited as a result of

three generations of affected family members following that pattern. I

was told that they would keep some of my muscle frozen if nDNA testing

became available. They do test for the known defects, but I think they

used blood for this. Of course, this was many years before you had

yours and Horizon was not the place that Dr. Shoffner used then.

laurie

> We are getting our three kids (and ourselves!) ready for the new

> school year. My four-year-old, who has a tentative mito diagnosis,

> is entering kindergarten (private, not public) in September. Right

> now, we'll probably pay for a speech therapist once per week to visit

> him there, but we may increase it to more visits.

>

> He is also still enrolled in his public special ed preschool class,

> and I'm checking with his Child Study team to see if they will

> provide any help for him (doubt it) since he's leaving that program.

>

> Maybe those of you who have worked with special kids can tell me if

> the public school Child Study Team has any role for children who

> attend private school.